Gtpbp3 Variant Search Result - Rat Genome Database

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559 records found for search term Gtpbp3

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
12835531	CV376364	single nucleotide variant	NM_032620.4(GTPBP3):c.*6T>C	GTPBP3-related disorder [RCV003902586]\|not provided [RCV001704427]	likely benign	19	17341709	17341709	Human	1	name , trait , alternate_id
155796471	CV1861866	single nucleotide variant	NM_032620.4(GTPBP3):c.-16C>G	not specified [RCV002470148]	uncertain significance	19	17337596	17337596	Human		name
12832956	CV376371	single nucleotide variant	NM_032620.4(GTPBP3):c.*15G>T	not provided [RCV004717568]\|not specified [RCV000417577]	benign	19	17341718	17341718	Human		name
12836689	CV376381	single nucleotide variant	NM_032620.4(GTPBP3):c.*18G>A	not specified [RCV000423842]	likely benign	19	17341721	17341721	Human		name
150426454	CV1188724	single nucleotide variant	NM_032620.4(GTPBP3):c.*342A>G	not provided [RCV001559600]	likely benign	19	17342045	17342045	Human		name
151799661	CV1430699	single nucleotide variant	NM_032620.4(GTPBP3):c.53+6G>A	not provided [RCV001877261]	uncertain significance	19	17337670	17337670	Human		name
151832135	CV1480343	single nucleotide variant	NM_032620.4(GTPBP3):c.53+5G>C	not provided [RCV001935160]	uncertain significance	19	17337669	17337669	Human		name
152160997	CV1619262	single nucleotide variant	NM_032620.4(GTPBP3):c.54-4C>T	not provided [RCV002159636]	likely benign	19	17338004	17338004	Human		name
156199775	CV1886256	single nucleotide variant	NM_032620.4(GTPBP3):c.54-9C>G	not provided [RCV003084173]	likely benign	19	17337999	17337999	Human		name
405121716	CV2888203	single nucleotide variant	NM_032620.4(GTPBP3):c.54-9C>T	not provided [RCV003559162]	likely benign	19	17337999	17337999	Human		name
15109721	CV780179	single nucleotide variant	NM_032620.4(GTPBP3):c.54-6T>C	not provided [RCV000960759]	benign	19	17338002	17338002	Human		name
150547581	CV1292086	single nucleotide variant	NM_032620.4(GTPBP3):c.592-1G>C	Combined oxidative phosphorylation defect type 23 [RCV001733752]\|Inborn genetic diseases [RCV003346661]\|not provided [RCV001861043]	likely pathogenic\|uncertain significance	19	17338953	17338953	Human	2	name
151841666	CV1361367	single nucleotide variant	NM_032620.4(GTPBP3):c.664+4G>T	not provided [RCV001881428]	uncertain significance	19	17339030	17339030	Human		name
151737171	CV1364634	single nucleotide variant	NM_032620.4(GTPBP3):c.665-4A>G	not provided [RCV002021942]	uncertain significance	19	17339119	17339119	Human		name
151861440	CV1369338	single nucleotide variant	NM_032620.4(GTPBP3):c.808+3G>A	not provided [RCV002034407]	uncertain significance	19	17339269	17339269	Human		name
151810658	CV1417374	single nucleotide variant	NM_032620.4(GTPBP3):c.592-3C>T	not provided [RCV002028940]	uncertain significance	19	17338951	17338951	Human		name
151755750	CV1434043	single nucleotide variant	NM_032620.4(GTPBP3):c.974+6C>T	not provided [RCV002043734]	uncertain significance	19	17339605	17339605	Human		name
151876960	CV1461475	single nucleotide variant	NM_032620.4(GTPBP3):c.809-3C>T	not provided [RCV001925940]	uncertain significance	19	17339431	17339431	Human		name
151828942	CV1468707	single nucleotide variant	NM_032620.4(GTPBP3):c.974+3G>A	GTPBP3-related disorder [RCV003941241]\|not provided [RCV002030607]	likely benign\|uncertain significance	19	17339602	17339602	Human	1	name , trait , alternate_id
151767405	CV1492992	single nucleotide variant	NM_032620.4(GTPBP3):c.592-3C>A	not provided [RCV001914644]	uncertain significance	19	17338951	17338951	Human		name
151846166	CV1495048	single nucleotide variant	NM_032620.4(GTPBP3):c.974+3G>T	not provided [RCV001978306]	uncertain significance	19	17339602	17339602	Human		name
151872598	CV1513442	single nucleotide variant	NM_032620.4(GTPBP3):c.975-4G>T	not provided [RCV001940009]	uncertain significance	19	17341040	17341040	Human		name
152111703	CV1520429	single nucleotide variant	NM_032620.4(GTPBP3):c.388+9C>T	not provided [RCV002196860]	likely benign	19	17338460	17338460	Human		name
152045600	CV1525748	single nucleotide variant	NM_032620.4(GTPBP3):c.53+15G>A	not provided [RCV002126620]	likely benign	19	17337679	17337679	Human		name
152127271	CV1530253	single nucleotide variant	NM_032620.4(GTPBP3):c.664+8T>C	not provided [RCV002198846]	likely benign	19	17339034	17339034	Human		name
152115096	CV1537480	single nucleotide variant	NM_032620.4(GTPBP3):c.301+8T>A	not provided [RCV002134994]	likely benign	19	17338263	17338263	Human		name
152145796	CV1564219	single nucleotide variant	NM_032620.4(GTPBP3):c.301+8T>C	not provided [RCV002138786]	likely benign	19	17338263	17338263	Human		name
152076933	CV1566065	single nucleotide variant	NM_032620.4(GTPBP3):c.809-5C>T	not provided [RCV002075858]	likely benign	19	17339429	17339429	Human		name
152087404	CV1594690	single nucleotide variant	NM_032620.4(GTPBP3):c.591+9C>T	not provided [RCV002113588]	likely benign	19	17338750	17338750	Human		name
152051194	CV1607037	single nucleotide variant	NM_032620.4(GTPBP3):c.591+8C>A	not provided [RCV002108990]	likely benign	19	17338749	17338749	Human		name
152163969	CV1619137	deletion	NM_032620.4(GTPBP3):c.592-6del	not provided [RCV002123707]	benign	19	17338945	17338945	Human		name
152142549	CV1639278	single nucleotide variant	NM_032620.4(GTPBP3):c.301+7G>T	not provided [RCV002178251]	likely benign	19	17338262	17338262	Human		name
152124651	CV1640380	single nucleotide variant	NM_032620.4(GTPBP3):c.974+8G>T	not provided [RCV002176028]	likely benign	19	17339607	17339607	Human		name
156404716	CV1916693	single nucleotide variant	NM_032620.4(GTPBP3):c.808+9G>C	not provided [RCV002606162]	likely benign	19	17339275	17339275	Human		name
156240144	CV1973172	single nucleotide variant	NM_032620.4(GTPBP3):c.53+17A>G	not provided [RCV002597119]	likely benign	19	17337681	17337681	Human		name
156235774	CV1982421	single nucleotide variant	NM_032620.4(GTPBP3):c.809-6C>G	not provided [RCV002626963]	likely benign	19	17339428	17339428	Human		name
156091500	CV1994363	single nucleotide variant	NM_032620.4(GTPBP3):c.591+8C>T	not provided [RCV002639237]	likely benign	19	17338749	17338749	Human		name
156289306	CV2013011	single nucleotide variant	NM_032620.4(GTPBP3):c.592-7C>A	not provided [RCV002715587]	likely benign	19	17338947	17338947	Human		name
156018914	CV2044323	single nucleotide variant	NM_032620.4(GTPBP3):c.591+7C>A	not provided [RCV002795489]	likely benign	19	17338748	17338748	Human		name
156093376	CV2077365	single nucleotide variant	NM_032620.4(GTPBP3):c.974+9A>G	not provided [RCV002847803]	likely benign	19	17339608	17339608	Human		name
155981334	CV2098018	single nucleotide variant	NM_032620.4(GTPBP3):c.664+9A>G	not provided [RCV002907720]	uncertain significance	19	17339035	17339035	Human		name
156266313	CV2125359	single nucleotide variant	NM_032620.4(GTPBP3):c.54-12C>G	not provided [RCV002934068]	likely benign	19	17337996	17337996	Human		name
156208469	CV2131439	single nucleotide variant	NM_032620.4(GTPBP3):c.975-5C>T	not provided [RCV002985495]	likely benign	19	17341039	17341039	Human		name
156107696	CV2161063	single nucleotide variant	NM_032620.4(GTPBP3):c.388+5G>A	not provided [RCV003038819]	uncertain significance	19	17338456	17338456	Human		name
405080469	CV2854835	single nucleotide variant	NM_032620.4(GTPBP3):c.53+10C>G	not provided [RCV003549190]	likely benign	19	17337674	17337674	Human		name
405226854	CV2892311	single nucleotide variant	NM_032620.4(GTPBP3):c.591+7C>T	not provided [RCV003554707]	likely benign	19	17338748	17338748	Human		name
405199424	CV2896958	single nucleotide variant	NM_032620.4(GTPBP3):c.808+9G>T	not provided [RCV003565795]	likely benign	19	17339275	17339275	Human		name
405100507	CV2947866	single nucleotide variant	NM_032620.4(GTPBP3):c.54-19G>T	not provided [RCV003665954]	likely benign	19	17337989	17337989	Human		name
405131234	CV2962496	single nucleotide variant	NM_032620.4(GTPBP3):c.592-7C>T	not provided [RCV003668396]	likely benign	19	17338947	17338947	Human		name
405227813	CV2963478	single nucleotide variant	NM_032620.4(GTPBP3):c.53+18G>T	not provided [RCV003681618]	likely benign	19	17337682	17337682	Human		name
405014622	CV2994161	single nucleotide variant	NM_032620.4(GTPBP3):c.591+8C>G	not provided [RCV003694194]	likely benign	19	17338749	17338749	Human		name
405123398	CV3126344	single nucleotide variant	NM_032620.4(GTPBP3):c.53+18G>A	not provided [RCV003815096]	likely benign	19	17337682	17337682	Human		name
405062803	CV3148445	single nucleotide variant	NM_032620.4(GTPBP3):c.975-4G>A	not provided [RCV003850401]	likely benign	19	17341040	17341040	Human		name
405271526	CV3209469	single nucleotide variant	NM_032620.4(GTPBP3):c.592-6C>T	GTPBP3-related disorder [RCV003949788]	likely benign	19	17338948	17338948	Human		name , trait , alternate_id
12845529	CV377341	single nucleotide variant	NM_032620.4(GTPBP3):c.592-5G>T	Inborn genetic diseases [RCV002521561]\|not provided [RCV001703578]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	17338949	17338949	Human	1	name
597946566	CV3800169	single nucleotide variant	NM_032620.4(GTPBP3):c.389-5T>C	not provided [RCV005134861]	likely benign	19	17338534	17338534	Human		name
597871172	CV3805963	single nucleotide variant	NM_032620.4(GTPBP3):c.53+12G>A	not provided [RCV005148373]	likely benign	19	17337676	17337676	Human		name
597859354	CV3817139	single nucleotide variant	NM_032620.4(GTPBP3):c.592-5G>A	not provided [RCV005146520]	likely benign	19	17338949	17338949	Human		name
13521495	CV495862	single nucleotide variant	NM_032620.4(GTPBP3):c.388+5G>C	not provided [RCV000599497]	likely pathogenic	19	17338456	17338456	Human		name
15122822	CV695812	single nucleotide variant	NM_032620.4(GTPBP3):c.302-8C>G	not provided [RCV000874481]	likely benign	19	17338357	17338357	Human		name
15128582	CV695813	single nucleotide variant	NM_032620.4(GTPBP3):c.592-9C>T	not provided [RCV000875513]	likely benign	19	17338945	17338945	Human		name
15140152	CV695814	single nucleotide variant	NM_032620.4(GTPBP3):c.592-5G>C	not provided [RCV000877442]	likely benign	19	17338949	17338949	Human		name
150422122	CV1195376	single nucleotide variant	NM_032620.4(GTPBP3):c.664+18T>G	Combined oxidative phosphorylation defect type 23 [RCV003132519]\|not provided [RCV001570859]	likely benign\|uncertain significance	19	17339044	17339044	Human	1	name
150468926	CV1207487	single nucleotide variant	NM_032620.4(GTPBP3):c.975-83C>T	not provided [RCV001588176]	likely benign	19	17340961	17340961	Human		name
150442046	CV1227902	single nucleotide variant	NM_032620.4(GTPBP3):c.974+37G>C	Combined oxidative phosphorylation defect type 23 [RCV001703140]\|not provided [RCV001639706]	benign	19	17339636	17339636	Human	1	name
150442083	CV1233640	duplication	NM_032620.4(GTPBP3):c.389-13dup	not provided [RCV001645328]	benign	19	17338523	17338524	Human		name
150450881	CV1275154	single nucleotide variant	NM_032620.4(GTPBP3):c.974+38G>A	Combined oxidative phosphorylation defect type 23 [RCV001702337]\|not provided [RCV001713694]	benign	19	17339637	17339637	Human	1	name
151882426	CV1349797	single nucleotide variant	NM_032620.4(GTPBP3):c.665-42T>A	not provided [RCV001941292]	uncertain significance	19	17339081	17339081	Human		name
151771237	CV1360652	single nucleotide variant	NM_032620.4(GTPBP3):c.665-39C>T	not provided [RCV001864095]	uncertain significance	19	17339084	17339084	Human		name
151732290	CV1390147	single nucleotide variant	NM_032620.4(GTPBP3):c.664+24A>G	not provided [RCV001911004]	uncertain significance	19	17339050	17339050	Human		name
151716266	CV1441978	single nucleotide variant	NM_032620.4(GTPBP3):c.388+14T>G	not provided [RCV002002973]	uncertain significance	19	17338465	17338465	Human		name
151888226	CV1484953	single nucleotide variant	NM_032620.4(GTPBP3):c.664+19G>A	not provided [RCV001963162]	pathogenic	19	17339045	17339045	Human		name
151756683	CV1517182	single nucleotide variant	NM_032620.4(GTPBP3):c.665-43C>T	Inborn genetic diseases [RCV002548944]\|not provided [RCV002043812]	uncertain significance	19	17339080	17339080	Human	1	name
152130569	CV1519800	single nucleotide variant	NM_032620.4(GTPBP3):c.975-18T>C	not provided [RCV002155475]	likely benign	19	17341026	17341026	Human		name
152088391	CV1541321	single nucleotide variant	NM_032620.4(GTPBP3):c.301+15G>A	not provided [RCV002171508]	likely benign	19	17338270	17338270	Human		name
152046959	CV1548521	single nucleotide variant	NM_032620.4(GTPBP3):c.974+13G>A	not provided [RCV002071708]	likely benign	19	17339612	17339612	Human		name
152068355	CV1571170	single nucleotide variant	NM_032620.4(GTPBP3):c.975-11T>C	not provided [RCV002129273]	likely benign	19	17341033	17341033	Human		name
152093592	CV1584901	single nucleotide variant	NM_032620.4(GTPBP3):c.302-16C>T	not provided [RCV002114406]	likely benign	19	17338349	17338349	Human		name
152098910	CV1595494	single nucleotide variant	NM_032620.4(GTPBP3):c.974+16G>A	not provided [RCV002213741]	likely benign	19	17339615	17339615	Human		name
152123098	CV1603096	single nucleotide variant	NM_032620.4(GTPBP3):c.301+14G>C	not provided [RCV002198321]	likely benign	19	17338269	17338269	Human		name
152081838	CV1607888	single nucleotide variant	NM_032620.4(GTPBP3):c.591+12A>G	not provided [RCV002193120]	likely benign	19	17338753	17338753	Human		name
152136654	CV1608648	single nucleotide variant	NM_032620.4(GTPBP3):c.974+19G>A	not provided [RCV002119795]	likely benign	19	17339618	17339618	Human		name
152156797	CV1615822	single nucleotide variant	NM_032620.4(GTPBP3):c.664+31C>T	not provided [RCV002158951]	likely benign	19	17339057	17339057	Human		name
152085086	CV1623013	deletion	NM_032620.4(GTPBP3):c.975-11del	not provided [RCV002113273]	benign	19	17341032	17341032	Human		name
152167116	CV1632959	single nucleotide variant	NM_032620.4(GTPBP3):c.665-38C>G	not provided [RCV002182086]	likely benign	19	17339085	17339085	Human		name
152167121	CV1632960	single nucleotide variant	NM_032620.4(GTPBP3):c.665-35A>G	not provided [RCV002182087]	likely benign	19	17339088	17339088	Human		name
152059840	CV1650336	single nucleotide variant	NM_032620.4(GTPBP3):c.592-20T>C	not provided [RCV002128211]	likely benign	19	17338934	17338934	Human		name
152143587	CV1651510	single nucleotide variant	NM_032620.4(GTPBP3):c.809-10C>G	not provided [RCV002138482]	likely benign	19	17339424	17339424	Human		name
156371191	CV1905386	single nucleotide variant	NM_032620.4(GTPBP3):c.664+26G>A	not provided [RCV003092444]	likely benign	19	17339052	17339052	Human		name
156018910	CV1914816	single nucleotide variant	NM_032620.4(GTPBP3):c.388+11G>T	not provided [RCV002636608]\|not specified [RCV003988060]	likely benign	19	17338462	17338462	Human		name
155942783	CV1920772	single nucleotide variant	NM_032620.4(GTPBP3):c.664+36C>T	not provided [RCV002615748]	uncertain significance	19	17339062	17339062	Human		name
156243847	CV1973327	single nucleotide variant	NM_032620.4(GTPBP3):c.302-20T>A	not provided [RCV002597237]	likely benign	19	17338345	17338345	Human		name
156354711	CV2012156	single nucleotide variant	NM_032620.4(GTPBP3):c.664+16G>T	not provided [RCV002720440]	uncertain significance	19	17339042	17339042	Human		name
155945990	CV2028890	single nucleotide variant	NM_032620.4(GTPBP3):c.664+30A>T	Inborn genetic diseases [RCV004632060]\|not provided [RCV002730404]	uncertain significance	19	17339056	17339056	Human	1	name
155927632	CV2070920	single nucleotide variant	NM_032620.4(GTPBP3):c.302-16C>G	not provided [RCV002838603]	likely benign	19	17338349	17338349	Human		name
156040628	CV2089625	single nucleotide variant	NM_032620.4(GTPBP3):c.592-11T>G	not provided [RCV002867427]	likely benign	19	17338943	17338943	Human		name
156100335	CV2117138	single nucleotide variant	NM_032620.4(GTPBP3):c.302-20T>C	not provided [RCV002952717]	likely benign	19	17338345	17338345	Human		name
156149679	CV2131158	single nucleotide variant	NM_032620.4(GTPBP3):c.664+34C>T	not provided [RCV002982608]	uncertain significance	19	17339060	17339060	Human		name
156163656	CV2135660	single nucleotide variant	NM_032620.4(GTPBP3):c.808+10C>T	not provided [RCV002983099]	uncertain significance	19	17339276	17339276	Human		name
156077291	CV2173570	single nucleotide variant	NM_032620.4(GTPBP3):c.665-35A>C	not provided [RCV003053907]	likely benign	19	17339088	17339088	Human		name
156186079	CV2178672	single nucleotide variant	NM_032620.4(GTPBP3):c.301+11C>T	not provided [RCV003057681]	likely benign	19	17338266	17338266	Human		name
155979564	CV2243819	single nucleotide variant	NM_032620.4(GTPBP3):c.1254-3C>T	Inborn genetic diseases [RCV002777583]	uncertain significance	19	17341475	17341475	Human	1	name
402464220	CV2919917	single nucleotide variant	NM_032620.4(GTPBP3):c.592-16C>T	not provided [RCV003568894]	likely benign	19	17338938	17338938	Human		name
405100672	CV2948142	single nucleotide variant	NM_032620.4(GTPBP3):c.591+18C>T	not provided [RCV003666121]	likely benign	19	17338759	17338759	Human		name
405237705	CV2969992	single nucleotide variant	NM_032620.4(GTPBP3):c.808+12G>A	not provided [RCV003683377]	likely benign	19	17339278	17339278	Human		name
404989391	CV2998677	single nucleotide variant	NM_032620.4(GTPBP3):c.809-14T>C	not provided [RCV003692142]	likely benign	19	17339420	17339420	Human		name
405135315	CV3018630	single nucleotide variant	NM_032620.4(GTPBP3):c.974+13G>C	not provided [RCV003702052]	likely benign	19	17339612	17339612	Human		name
405064057	CV3020722	single nucleotide variant	NM_032620.4(GTPBP3):c.1254-6T>C	not provided [RCV003697900]	likely benign	19	17341472	17341472	Human		name
402498795	CV3038274	single nucleotide variant	NM_032620.4(GTPBP3):c.1253+8C>A	not provided [RCV003714526]	likely benign	19	17341330	17341330	Human		name
405078791	CV3166651	single nucleotide variant	NM_032620.4(GTPBP3):c.809-10C>T	not provided [RCV003851425]	likely benign	19	17339424	17339424	Human		name
405719440	CV3255620	single nucleotide variant	NM_032620.4(GTPBP3):c.665-44G>C	Inborn genetic diseases [RCV004388577]	uncertain significance	19	17339079	17339079	Human	1	name
597891979	CV3763077	single nucleotide variant	NM_032620.4(GTPBP3):c.665-38C>T	not provided [RCV005110850]	likely benign	19	17339085	17339085	Human		name
12837847	CV376352	single nucleotide variant	NM_032620.4(GTPBP3):c.302-17C>G	not provided [RCV002061669]\|not specified [RCV000425879]	benign	19	17338348	17338348	Human		name
12840171	CV377544	single nucleotide variant	NM_032620.4(GTPBP3):c.664+29G>A	not provided [RCV001865360]\|not specified [RCV000430179]	likely benign	19	17339055	17339055	Human		name
597893033	CV3785062	single nucleotide variant	NM_032620.4(GTPBP3):c.592-14C>T	not provided [RCV005125841]	likely benign	19	17338940	17338940	Human		name
12839804	CV379499	single nucleotide variant	NM_032620.4(GTPBP3):c.388+13G>A	not provided [RCV002522403]\|not specified [RCV000429513]	likely benign	19	17338464	17338464	Human		name
12836173	CV379503	single nucleotide variant	NM_032620.4(GTPBP3):c.592-13C>T	not provided [RCV001703688]	benign\|likely benign	19	17338941	17338941	Human		name
597970836	CV3802106	single nucleotide variant	NM_032620.4(GTPBP3):c.389-13G>T	not provided [RCV005141898]	likely benign	19	17338526	17338526	Human		name
597898445	CV3826632	single nucleotide variant	NM_032620.4(GTPBP3):c.301+10C>T	not provided [RCV005180765]	likely benign	19	17338265	17338265	Human		name
597913292	CV3833776	single nucleotide variant	NM_032620.4(GTPBP3):c.301+11C>G	not provided [RCV005183135]	likely benign	19	17338266	17338266	Human		name
597898436	CV3854568	single nucleotide variant	NM_032620.4(GTPBP3):c.975-13C>G	not provided [RCV005201675]	likely benign	19	17341031	17341031	Human		name
598253285	CV3974896	single nucleotide variant	NM_032620.4(GTPBP3):c.664+21G>C	Inborn genetic diseases [RCV005346233]	uncertain significance	19	17339047	17339047	Human	1	name
13535696	CV506589	single nucleotide variant	NM_032620.4(GTPBP3):c.1254-7C>T	GTPBP3-related disorder [RCV003905643]\|not provided [RCV000874193]\|not specified [RCV000602520]	likely benign	19	17341471	17341471	Human	1	name , trait , alternate_id
13539622	CV507636	single nucleotide variant	NM_032620.4(GTPBP3):c.808+13C>T	not provided [RCV002065302]\|not specified [RCV000613531]	likely benign	19	17339279	17339279	Human		name
14730117	CV668719	single nucleotide variant	NM_032620.4(GTPBP3):c.591+52C>T	not provided [RCV000835526]	benign	19	17338793	17338793	Human		name
14730120	CV669631	single nucleotide variant	NM_032620.4(GTPBP3):c.592-64A>G	not provided [RCV000835527]	benign	19	17338890	17338890	Human		name
14712896	CV669866	single nucleotide variant	NM_032620.4(GTPBP3):c.54-157T>C	not provided [RCV000828565]	benign	19	17337851	17337851	Human		name
150434822	CV1231188	single nucleotide variant	NM_032620.4(GTPBP3):c.975-117C>G	not provided [RCV001643832]	benign	19	17340927	17340927	Human		name
150497388	CV1237014	deletion	NM_032620.4(GTPBP3):c.974+160del	not provided [RCV001656078]	benign	19	17339739	17339739	Human		name
150479492	CV1258262	single nucleotide variant	NM_032620.4(GTPBP3):c.974+136G>T	not provided [RCV001685681]	benign	19	17339735	17339735	Human		name
150448692	CV1270499	single nucleotide variant	NM_032620.4(GTPBP3):c.1254-63C>A	not provided [RCV001691637]	benign	19	17341415	17341415	Human		name
152060951	CV1584981	single nucleotide variant	NM_032620.4(GTPBP3):c.1253+15A>G	not provided [RCV002073670]	likely benign	19	17341337	17341337	Human		name
152146773	CV1615444	single nucleotide variant	NM_032620.4(GTPBP3):c.1254-11G>A	not provided [RCV002101595]	likely benign	19	17341467	17341467	Human		name
405172552	CV3122767	single nucleotide variant	NM_032620.4(GTPBP3):c.1253+10C>A	not provided [RCV003819165]	likely benign	19	17341332	17341332	Human		name
14714492	CV668721	single nucleotide variant	NM_032620.4(GTPBP3):c.974+170C>T	not provided [RCV000829056]	benign	19	17339769	17339769	Human		name
14730123	CV668723	single nucleotide variant	NM_032620.4(GTPBP3):c.975-117C>T	not provided [RCV000835528]	benign	19	17340927	17340927	Human		name
14721757	CV669873	single nucleotide variant	NM_032620.4(GTPBP3):c.975-254T>C	not provided [RCV000831809]	benign	19	17340790	17340790	Human		name
14746291	CV670168	single nucleotide variant	NM_032620.4(GTPBP3):c.975-222C>T	not provided [RCV000844282]	benign	19	17340822	17340822	Human		name
152044577	CV1555969	microsatellite	NM_032620.4(GTPBP3):c.809-22TCT[2]	not provided [RCV002206775]	likely benign	19	17339412	17339414	Human		name
150482980	CV1261708	single nucleotide variant	NM_001195422.1(GTPBP3):c.120-522G>A	not provided [RCV001686312]	benign	19	17337486	17337486	Human		name
151736722	CV1461897	deletion	NM_032620.4(GTPBP3):c.808+5_808+17del	not provided [RCV001967710]	uncertain significance	19	17339269	17339281	Human		name
405202146	CV3038483	microsatellite	NM_032620.4(GTPBP3):c.302-11_302-8del	not provided [RCV003707549]	likely benign	19	17338349	17338352	Human		name
150544417	CV1313329	deletion	NM_032620.4(GTPBP3):c.664+23_664+26del	Combined oxidative phosphorylation defect type 23 [RCV001783405]\|GTPBP3-related disorder [RCV004757478]\|not provided [RCV002034566]	pathogenic\|likely pathogenic	19	17339047	17339050	Human	1	name , trait , alternate_id
151828894	CV1465451	single nucleotide variant	NM_032620.4(GTPBP3):c.8G>T (p.Arg3Leu)	not provided [RCV002014117]	uncertain significance	19	17337619	17337619	Human		name
151740511	CV1477885	deletion	NM_032620.4(GTPBP3):c.665-47_665-46del	not provided [RCV001947059]	pathogenic	19	17339075	17339076	Human		name
151766802	CV1496076	single nucleotide variant	NM_032620.4(GTPBP3):c.99C>T (p.Gly33=)	not provided [RCV001863689]	likely benign\|uncertain significance	19	17338053	17338053	Human		name
152089708	CV1580707	single nucleotide variant	NM_032620.4(GTPBP3):c.63G>A (p.Thr21=)	not provided [RCV002094000]	likely benign	19	17338017	17338017	Human		name
152143699	CV1596789	deletion	NM_032620.4(GTPBP3):c.302-18_302-15del	not provided [RCV002157104]	likely benign	19	17338347	17338350	Human		name
152073223	CV1650679	single nucleotide variant	NM_032620.4(GTPBP3):c.84A>G (p.Pro28=)	not provided [RCV002169564]	likely benign	19	17338038	17338038	Human		name
156274343	CV1971084	single nucleotide variant	NM_032620.4(GTPBP3):c.7C>T (p.Arg3Trp)	not provided [RCV002598195]	uncertain significance	19	17337618	17337618	Human		name
156255977	CV2098241	single nucleotide variant	NM_032620.4(GTPBP3):c.8G>A (p.Arg3Gln)	not provided [RCV002895415]	uncertain significance	19	17337619	17337619	Human		name
156124600	CV2124831	deletion	NM_032620.4(GTPBP3):c.975-20_975-19del	not provided [RCV002953635]	likely benign	19	17341024	17341025	Human		name
156291555	CV2246431	deletion	NM_032620.4(GTPBP3):c.12del (p.Leu5fs)	Inborn genetic diseases [RCV002807381]	pathogenic	19	17337619	17337619	Human	1	name
405153216	CV2894008	microsatellite	NM_032620.4(GTPBP3):c.1254-7_1254-6del	not provided [RCV003561872]	likely benign	19	17341468	17341469	Human		name
405172059	CV3025807	deletion	NM_032620.4(GTPBP3):c.974+15_974+23del	not provided [RCV003704677]	likely benign	19	17339612	17339620	Human		name
402505411	CV3038982	single nucleotide variant	NM_032620.4(GTPBP3):c.45G>A (p.Gly15=)	GTPBP3-related disorder [RCV003948944]\|not provided [RCV003715148]	likely benign	19	17337656	17337656	Human	1	name , trait , alternate_id
404984594	CV3121660	microsatellite	NM_032620.4(GTPBP3):c.808+13_808+15del	not provided [RCV003826459]	likely benign	19	17339274	17339276	Human		name
597650976	CV3551965	duplication	NM_032620.4(GTPBP3):c.664+32_664+34dup	not provided [RCV004820678]	uncertain significance	19	17339056	17339057	Human		name
12740942	CV360402	single nucleotide variant	NM_032620.4(GTPBP3):c.8G>C (p.Arg3Pro)	not specified [RCV000413592]	uncertain significance	19	17337619	17337619	Human		name
597879044	CV3813771	single nucleotide variant	NM_032620.4(GTPBP3):c.1A>G (p.Met1Val)	not provided [RCV005149513]	pathogenic	19	17337612	17337612	Human		name
597926285	CV3819687	single nucleotide variant	NM_032620.4(GTPBP3):c.2T>C (p.Met1Thr)	not provided [RCV005156387]	pathogenic	19	17337613	17337613	Human		name
12899496	CV410547	deletion	NM_032620.4(GTPBP3):c.974+20_974+22del	not provided [RCV002056763]\|not specified [RCV000480348]	benign\|likely benign	19	17339617	17339619	Human		name
13509174	CV482186	single nucleotide variant	NM_032620.4(GTPBP3):c.2T>A (p.Met1Lys)	not provided [RCV000579069]	pathogenic	19	17337613	17337613	Human		name
14711844	CV656519	single nucleotide variant	NM_032620.4(GTPBP3):c.93C>T (p.Gly31=)	not provided [RCV000828183]	likely benign	19	17338047	17338047	Human		name
151872540	CV1480685	single nucleotide variant	NM_032620.4(GTPBP3):c.17G>A (p.Trp6Ter)	See cases [RCV003156143]\|not provided [RCV001906675]	pathogenic\|likely pathogenic	19	17337628	17337628	Human		name
152084662	CV1533551	single nucleotide variant	NM_032620.4(GTPBP3):c.147A>G (p.Ala49=)	not provided [RCV002093311]	likely benign	19	17338101	17338101	Human		name
152045812	CV1539526	single nucleotide variant	NM_032620.4(GTPBP3):c.211C>T (p.Leu71=)	not provided [RCV002145072]	likely benign	19	17338165	17338165	Human		name
152158107	CV1542168	single nucleotide variant	NM_032620.4(GTPBP3):c.246C>T (p.Leu82=)	not provided [RCV002202956]	likely benign	19	17338200	17338200	Human		name
152167383	CV1577431	single nucleotide variant	NM_032620.4(GTPBP3):c.243G>A (p.Leu81=)	not provided [RCV002204692]	likely benign	19	17338197	17338197	Human		name
152161497	CV1619438	single nucleotide variant	NM_032620.4(GTPBP3):c.168C>T (p.Pro56=)	not provided [RCV002159720]	likely benign	19	17338122	17338122	Human		name
152088356	CV1638893	single nucleotide variant	NM_032620.4(GTPBP3):c.138C>T (p.Cys46=)	not provided [RCV002150258]	likely benign	19	17338092	17338092	Human		name
152029764	CV1653460	single nucleotide variant	NM_032620.4(GTPBP3):c.261C>T (p.Ser87=)	not provided [RCV002085914]	likely benign	19	17338215	17338215	Human		name
156292308	CV1926576	single nucleotide variant	NM_032620.4(GTPBP3):c.219T>G (p.Leu73=)	not provided [RCV002628864]	likely benign	19	17338173	17338173	Human		name
156162017	CV1933258	single nucleotide variant	NM_032620.4(GTPBP3):c.10G>A (p.Gly4Arg)	not provided [RCV002624406]	uncertain significance	19	17337621	17337621	Human		name
156319881	CV2071310	single nucleotide variant	NM_032620.4(GTPBP3):c.141C>T (p.Gly47=)	not provided [RCV002834625]	likely benign	19	17338095	17338095	Human		name
155985091	CV2097577	single nucleotide variant	NM_032620.4(GTPBP3):c.111C>T (p.Phe37=)	not provided [RCV002882117]	likely benign	19	17338065	17338065	Human		name
156094355	CV2114179	single nucleotide variant	NM_032620.4(GTPBP3):c.105C>A (p.Thr35=)	not provided [RCV002926799]	likely benign	19	17338059	17338059	Human		name
156263267	CV2128814	single nucleotide variant	NM_032620.4(GTPBP3):c.180C>T (p.His60=)	not provided [RCV002933962]	likely benign	19	17338134	17338134	Human		name
405239845	CV2882631	single nucleotide variant	NM_032620.4(GTPBP3):c.153C>T (p.Ile51=)	not provided [RCV003557166]	likely benign	19	17338107	17338107	Human		name
405125391	CV2886414	single nucleotide variant	NM_032620.4(GTPBP3):c.291C>T (p.Leu97=)	not provided [RCV003559519]	likely benign	19	17338245	17338245	Human		name
405227822	CV2980547	single nucleotide variant	NM_032620.4(GTPBP3):c.228C>T (p.His76=)	not provided [RCV003711009]	likely benign	19	17338182	17338182	Human		name
408388936	CV3522828	single nucleotide variant	NM_032620.4(GTPBP3):c.11G>T (p.Gly4Val)	not provided [RCV004769209]	uncertain significance	19	17337622	17337622	Human		name
12834865	CV377336	single nucleotide variant	NM_032620.4(GTPBP3):c.115C>T (p.Leu39=)	not specified [RCV000420684]	likely benign	19	17338069	17338069	Human		name
12842678	CV379496	single nucleotide variant	NM_032620.4(GTPBP3):c.114G>C (p.Ala38=)	not specified [RCV000434857]	likely benign	19	17338068	17338068	Human		name
12847086	CV379497	single nucleotide variant	NM_032620.4(GTPBP3):c.198A>C (p.Thr66=)	Combined oxidative phosphorylation defect type 23 [RCV001702371]\|not provided [RCV002061668]\|not specified [RCV000442852]	benign	19	17338152	17338152	Human	1	name
597888247	CV3804451	single nucleotide variant	NM_032620.4(GTPBP3):c.159C>G (p.Thr53=)	not provided [RCV005150902]	likely benign	19	17338113	17338113	Human		name
13526618	CV506823	single nucleotide variant	NM_032620.4(GTPBP3):c.150G>T (p.Val50=)	not provided [RCV000946014]\|not specified [RCV000604366]	benign\|likely benign	19	17338104	17338104	Human		name
150405960	CV1192116	single nucleotide variant	NM_001195422.1(GTPBP3):c.24C>T (p.Pro8=)	not provided [RCV001564526]	likely benign	19	17335027	17335027	Human		name
150508463	CV1284288	duplication	NM_032620.4(GTPBP3):c.974+203_974+205dup	not provided [RCV001720396]	benign	19	17339801	17339802	Human		name
151767531	CV1387770	single nucleotide variant	NM_032620.4(GTPBP3):c.74G>T (p.Ser25Ile)	not provided [RCV001970856]	uncertain significance	19	17338028	17338028	Human		name
151777774	CV1411841	single nucleotide variant	NM_032620.4(GTPBP3):c.61A>T (p.Thr21Ser)	not provided [RCV001930140]	uncertain significance	19	17338015	17338015	Human		name
151797442	CV1424362	single nucleotide variant	NM_032620.4(GTPBP3):c.83C>T (p.Pro28Leu)	Inborn genetic diseases [RCV004631919]\|not provided [RCV002047673]	uncertain significance	19	17338037	17338037	Human	1	name
151828049	CV1438000	single nucleotide variant	NM_032620.4(GTPBP3):c.86C>T (p.Ala29Val)	not provided [RCV001920217]	uncertain significance	19	17338040	17338040	Human		name
151840796	CV1462628	single nucleotide variant	NM_032620.4(GTPBP3):c.34G>T (p.Ala12Ser)	not provided [RCV002015308]	uncertain significance	19	17337645	17337645	Human		name
151873129	CV1467215	single nucleotide variant	NM_032620.4(GTPBP3):c.35C>A (p.Ala12Glu)	not provided [RCV001925470]	uncertain significance	19	17337646	17337646	Human		name
152126675	CV1528070	single nucleotide variant	NM_032620.4(GTPBP3):c.846G>A (p.Gly282=)	not provided [RCV002098915]	likely benign	19	17339471	17339471	Human		name
152031348	CV1548692	single nucleotide variant	NM_032620.4(GTPBP3):c.919T>C (p.Leu307=)	not provided [RCV002086344]	likely benign	19	17339544	17339544	Human		name
152075499	CV1551198	single nucleotide variant	NM_032620.4(GTPBP3):c.406C>A (p.Arg136=)	not provided [RCV002192352]	likely benign	19	17338556	17338556	Human		name
152175984	CV1562121	single nucleotide variant	NM_032620.4(GTPBP3):c.463C>T (p.Leu155=)	not provided [RCV002164123]	likely benign	19	17338613	17338613	Human		name
152173725	CV1567131	single nucleotide variant	NM_032620.4(GTPBP3):c.351A>T (p.Gly117=)	not provided [RCV002144207]	likely benign	19	17338414	17338414	Human		name
152127709	CV1572122	single nucleotide variant	NM_032620.4(GTPBP3):c.684A>G (p.Ala228=)	not provided [RCV002217635]	likely benign	19	17339142	17339142	Human		name
152133843	CV1582926	single nucleotide variant	NM_032620.4(GTPBP3):c.543C>T (p.Asp181=)	not provided [RCV002099843]	likely benign	19	17338693	17338693	Human		name
152082257	CV1589546	single nucleotide variant	NM_032620.4(GTPBP3):c.786G>A (p.Lys262=)	not provided [RCV002112911]	likely benign	19	17339244	17339244	Human		name
152074985	CV1599359	single nucleotide variant	NM_032620.4(GTPBP3):c.420A>G (p.Ala140=)	not provided [RCV002075608]	likely benign	19	17338570	17338570	Human		name
152085973	CV1599361	single nucleotide variant	NM_032620.4(GTPBP3):c.468C>G (p.Thr156=)	not provided [RCV002093488]	likely benign	19	17338618	17338618	Human		name
152052840	CV1607299	single nucleotide variant	NM_032620.4(GTPBP3):c.981G>A (p.Glu327=)	not provided [RCV002109193]	likely benign	19	17341050	17341050	Human		name
152062872	CV1612517	single nucleotide variant	NM_032620.4(GTPBP3):c.891T>C (p.Phe297=)	not provided [RCV002168222]	likely benign	19	17339516	17339516	Human		name
152069037	CV1613869	single nucleotide variant	NM_032620.4(GTPBP3):c.939C>A (p.Pro313=)	not provided [RCV002074845]	likely benign	19	17339564	17339564	Human		name
152105051	CV1622798	single nucleotide variant	NM_032620.4(GTPBP3):c.735G>A (p.Arg245=)	not provided [RCV002214694]	likely benign	19	17339193	17339193	Human		name
152176571	CV1631578	single nucleotide variant	NM_032620.4(GTPBP3):c.336G>A (p.Glu112=)	not provided [RCV002164717]	likely benign	19	17338399	17338399	Human		name
152028810	CV1655410	single nucleotide variant	NM_032620.4(GTPBP3):c.744A>C (p.Ser248=)	not provided [RCV002105366]	likely benign	19	17339202	17339202	Human		name
152154743	CV1658004	single nucleotide variant	NM_032620.4(GTPBP3):c.843A>G (p.Pro281=)	not provided [RCV002179978]	likely benign	19	17339468	17339468	Human		name
155671707	CV1773906	single nucleotide variant	NM_032620.4(GTPBP3):c.62C>T (p.Thr21Met)	not provided [RCV002297490]	uncertain significance	19	17338016	17338016	Human		name
155749099	CV1777612	single nucleotide variant	NM_032620.4(GTPBP3):c.29C>T (p.Ala10Val)	not provided [RCV002304295]	uncertain significance	19	17337640	17337640	Human		name
156196639	CV1900837	single nucleotide variant	NM_032620.4(GTPBP3):c.885C>G (p.Ala295=)	not provided [RCV002574596]	likely benign	19	17339510	17339510	Human		name
156019736	CV1914965	single nucleotide variant	NM_032620.4(GTPBP3):c.513G>T (p.Ala171=)	not provided [RCV002636649]	likely benign	19	17338663	17338663	Human		name
156355152	CV1930002	single nucleotide variant	NM_032620.4(GTPBP3):c.675A>G (p.Glu225=)	not provided [RCV002651215]	uncertain significance	19	17339133	17339133	Human		name
156172574	CV1930248	single nucleotide variant	NM_032620.4(GTPBP3):c.699G>T (p.Leu233=)	not provided [RCV002624760]	likely benign	19	17339157	17339157	Human		name
156227429	CV1958901	single nucleotide variant	NM_032620.4(GTPBP3):c.726C>T (p.Arg242=)	not provided [RCV002596680]	likely benign	19	17339184	17339184	Human		name
156416102	CV1966461	single nucleotide variant	NM_032620.4(GTPBP3):c.561C>T (p.Leu187=)	not provided [RCV002589528]	likely benign	19	17338711	17338711	Human		name
156416256	CV1976487	single nucleotide variant	NM_032620.4(GTPBP3):c.65G>T (p.Arg22Leu)	not provided [RCV002589605]	uncertain significance	19	17338019	17338019	Human		name
156381357	CV1978763	single nucleotide variant	NM_032620.4(GTPBP3):c.597G>C (p.Leu199=)	not provided [RCV002603987]	likely benign	19	17338959	17338959	Human		name
155987339	CV1979671	single nucleotide variant	NM_032620.4(GTPBP3):c.462C>T (p.Asn154=)	not provided [RCV002617867]	likely benign	19	17338612	17338612	Human		name
156009192	CV1981605	single nucleotide variant	NM_032620.4(GTPBP3):c.807C>T (p.Leu269=)	GTPBP3-related disorder [RCV003898457]\|not provided [RCV002618815]	likely benign\|uncertain significance	19	17339265	17339265	Human	1	name , trait , alternate_id
156044008	CV1999159	single nucleotide variant	NM_032620.4(GTPBP3):c.600C>T (p.Ala200=)	not provided [RCV002659144]	likely benign	19	17338962	17338962	Human		name
155911408	CV2029296	single nucleotide variant	NM_032620.4(GTPBP3):c.828C>T (p.Ile276=)	not provided [RCV002750168]	likely benign	19	17339453	17339453	Human		name
156279520	CV2074602	single nucleotide variant	NM_032620.4(GTPBP3):c.85G>C (p.Ala29Pro)	not provided [RCV002856332]	uncertain significance	19	17338039	17338039	Human		name
155938542	CV2075198	single nucleotide variant	NM_032620.4(GTPBP3):c.870C>T (p.Thr290=)	not provided [RCV002861614]	likely benign	19	17339495	17339495	Human		name
156142707	CV2082392	single nucleotide variant	NM_032620.4(GTPBP3):c.495C>T (p.Ile165=)	not provided [RCV002872039]	likely benign	19	17338645	17338645	Human		name
155985946	CV2091066	single nucleotide variant	NM_032620.4(GTPBP3):c.465G>T (p.Leu155=)	not provided [RCV002907923]	likely benign	19	17338615	17338615	Human		name
156022479	CV2105831	single nucleotide variant	NM_032620.4(GTPBP3):c.672C>T (p.Ile224=)	not provided [RCV002923132]	likely benign	19	17339130	17339130	Human		name
156035435	CV2124312	single nucleotide variant	NM_032620.4(GTPBP3):c.79G>C (p.Ala27Pro)	not provided [RCV002923694]	uncertain significance	19	17338033	17338033	Human		name
155932942	CV2129279	single nucleotide variant	NM_032620.4(GTPBP3):c.627C>T (p.Gly209=)	not provided [RCV002970735]	uncertain significance	19	17338989	17338989	Human		name
156165675	CV2133349	single nucleotide variant	NM_032620.4(GTPBP3):c.957G>T (p.Val319=)	not provided [RCV003005226]	likely benign	19	17339582	17339582	Human		name
156334261	CV2168227	single nucleotide variant	NM_032620.4(GTPBP3):c.528C>A (p.Ala176=)	not provided [RCV003029938]	likely benign	19	17338678	17338678	Human		name
405195440	CV2868759	single nucleotide variant	NM_032620.4(GTPBP3):c.666C>T (p.Ala222=)	not provided [RCV003550804]	likely benign	19	17339124	17339124	Human		name
405147451	CV2881685	single nucleotide variant	NM_032620.4(GTPBP3):c.738C>T (p.Leu246=)	GTPBP3-related disorder [RCV003939099]\|not provided [RCV003561471]	likely benign	19	17339196	17339196	Human	1	name , trait , alternate_id
405128876	CV2893192	single nucleotide variant	NM_032620.4(GTPBP3):c.576C>T (p.Ala192=)	not provided [RCV003559762]	likely benign	19	17338726	17338726	Human		name
402479068	CV2924905	single nucleotide variant	NM_032620.4(GTPBP3):c.402G>A (p.Gly134=)	not provided [RCV003571875]	likely benign	19	17338552	17338552	Human		name
405062229	CV2926448	single nucleotide variant	NM_032620.4(GTPBP3):c.960G>A (p.Arg320=)	not provided [RCV003580557]	likely benign	19	17339585	17339585	Human		name
405100286	CV2937960	single nucleotide variant	NM_032620.4(GTPBP3):c.363G>A (p.Val121=)	not provided [RCV003665731]	likely benign	19	17338426	17338426	Human		name
405089532	CV2939678	single nucleotide variant	NM_032620.4(GTPBP3):c.846G>C (p.Gly282=)	not provided [RCV003665190]	likely benign	19	17339471	17339471	Human		name
405183348	CV2952830	single nucleotide variant	NM_032620.4(GTPBP3):c.861G>A (p.Val287=)	not provided [RCV003676476]	likely benign	19	17339486	17339486	Human		name
404986830	CV3001609	single nucleotide variant	NM_032620.4(GTPBP3):c.612C>A (p.Ala204=)	not provided [RCV003691908]	likely benign	19	17338974	17338974	Human		name
405023704	CV3002917	single nucleotide variant	NM_032620.4(GTPBP3):c.705A>G (p.Ala235=)	not provided [RCV003695046]	likely benign	19	17339163	17339163	Human		name
402505144	CV3038947	single nucleotide variant	NM_032620.4(GTPBP3):c.618C>A (p.Ile206=)	not provided [RCV003715124]	likely benign	19	17338980	17338980	Human		name
405209628	CV3062101	single nucleotide variant	NM_032620.4(GTPBP3):c.996T>C (p.Ile332=)	not provided [RCV003731809]	likely benign	19	17341065	17341065	Human		name
405117212	CV3115894	single nucleotide variant	NM_032620.4(GTPBP3):c.76G>T (p.Gly26Cys)	not provided [RCV003814384]	uncertain significance	19	17338030	17338030	Human		name
404982489	CV3121502	single nucleotide variant	NM_032620.4(GTPBP3):c.468C>A (p.Thr156=)	not provided [RCV003826301]	likely benign	19	17338618	17338618	Human		name
405133144	CV3130157	single nucleotide variant	NM_032620.4(GTPBP3):c.801C>T (p.Asn267=)	not provided [RCV003838580]	likely benign	19	17339259	17339259	Human		name
405107746	CV3136541	single nucleotide variant	NM_032620.4(GTPBP3):c.837G>A (p.Pro279=)	not provided [RCV003835695]	likely benign	19	17339462	17339462	Human		name
405213648	CV3142753	single nucleotide variant	NM_032620.4(GTPBP3):c.906C>T (p.Ser302=)	not provided [RCV003846110]	likely benign	19	17339531	17339531	Human		name
402477730	CV3170164	single nucleotide variant	NM_032620.4(GTPBP3):c.744A>G (p.Ser248=)	not provided [RCV003875552]	likely benign	19	17339202	17339202	Human		name
405228010	CV3180228	single nucleotide variant	NM_032620.4(GTPBP3):c.342C>T (p.His114=)	not provided [RCV003864648]	likely benign	19	17338405	17338405	Human		name
404983958	CV3184313	single nucleotide variant	NM_032620.4(GTPBP3):c.486G>A (p.Ala162=)	not provided [RCV003880805]	likely benign	19	17338636	17338636	Human		name
405277279	CV3211403	single nucleotide variant	NM_001195422.1(GTPBP3):c.18T>A (p.Thr6=)	GTPBP3-related disorder [RCV003949298]\|not provided [RCV005256956]	likely benign	19	17335021	17335021	Human	1	name , trait , alternate_id
597662429	CV3688904	single nucleotide variant	NM_032620.4(GTPBP3):c.57G>T (p.Leu19Phe)	Inborn genetic diseases [RCV004977771]	uncertain significance	19	17338011	17338011	Human	1	name
12841994	CV376353	single nucleotide variant	NM_032620.4(GTPBP3):c.444C>T (p.Phe148=)	not provided [RCV002059883]\|not specified [RCV000433594]	likely benign	19	17338594	17338594	Human		name
12843966	CV376359	single nucleotide variant	NM_032620.4(GTPBP3):c.603C>T (p.His201=)	not provided [RCV001712286]	benign\|likely benign	19	17338965	17338965	Human		name
12843523	CV377339	single nucleotide variant	NM_032620.4(GTPBP3):c.321T>C (p.Gly107=)	not specified [RCV000436367]	likely benign	19	17338384	17338384	Human		name
12833350	CV377547	single nucleotide variant	NM_032620.4(GTPBP3):c.771C>T (p.Pro257=)	GTPBP3-related disorder [RCV003912691]\|not provided [RCV000873594]\|not specified [RCV000418322]	benign	19	17339229	17339229	Human	1	name , trait , alternate_id
597930133	CV3789259	single nucleotide variant	NM_032620.4(GTPBP3):c.966C>A (p.Ala322=)	not provided [RCV005131540]	likely benign	19	17339591	17339591	Human		name
12844093	CV379498	single nucleotide variant	NM_032620.4(GTPBP3):c.303T>C (p.Gly101=)	not provided [RCV003766263]\|not specified [RCV000437388]	likely benign	19	17338366	17338366	Human		name
12837838	CV379502	single nucleotide variant	NM_032620.4(GTPBP3):c.468C>T (p.Thr156=)	not provided [RCV002526361]\|not specified [RCV000425859]	likely benign	19	17338618	17338618	Human		name
597973198	CV3801020	single nucleotide variant	NM_032620.4(GTPBP3):c.393C>T (p.Ser131=)	not provided [RCV005143215]	likely benign	19	17338543	17338543	Human		name
597888567	CV3804721	single nucleotide variant	NM_032620.4(GTPBP3):c.951G>A (p.Glu317=)	not provided [RCV005150983]	likely benign	19	17339576	17339576	Human		name
597887239	CV3805149	single nucleotide variant	NM_032620.4(GTPBP3):c.930C>T (p.Gly310=)	not provided [RCV005150680]	likely benign	19	17339555	17339555	Human		name
597957038	CV3818123	single nucleotide variant	NM_032620.4(GTPBP3):c.753C>T (p.His251=)	not provided [RCV005162574]	likely benign	19	17339211	17339211	Human		name
597909826	CV3854127	single nucleotide variant	NM_032620.4(GTPBP3):c.771C>G (p.Pro257=)	not provided [RCV005203395]	likely benign	19	17339229	17339229	Human		name
15141018	CV694352	single nucleotide variant	NM_032620.4(GTPBP3):c.849C>T (p.Thr283=)	not provided [RCV000877599]	likely benign	19	17339474	17339474	Human		name
15179734	CV704847	single nucleotide variant	NM_032620.4(GTPBP3):c.588C>G (p.Thr196=)	not provided [RCV000951586]	likely benign	19	17338738	17338738	Human		name
15107658	CV716278	single nucleotide variant	NM_032620.4(GTPBP3):c.97G>A (p.Gly33Ser)	not provided [RCV000960336]	benign	19	17338051	17338051	Human		name
15163503	CV756809	single nucleotide variant	NM_032620.4(GTPBP3):c.687G>A (p.Leu229=)	not provided [RCV000926143]	likely benign	19	17339145	17339145	Human		name
15113986	CV756810	single nucleotide variant	NM_032620.4(GTPBP3):c.987T>G (p.Ala329=)	not provided [RCV000917194]	likely benign	19	17341056	17341056	Human		name
126728494	CV1018525	single nucleotide variant	NM_032620.4(GTPBP3):c.188G>A (p.Arg63Gln)	Combined oxidative phosphorylation defect type 23 [RCV001332866]	uncertain significance	19	17338142	17338142	Human	1	name
150542437	CV1314788	deletion	NM_032620.4(GTPBP3):c.748del (p.Val250fs)	GTPBP3-related disorder [RCV004757874]\|not provided [RCV005103853]	pathogenic\|likely pathogenic	19	17339203	17339203	Human	1	name , trait , alternate_id
151872468	CV1351622	single nucleotide variant	NM_032620.4(GTPBP3):c.160A>G (p.Ser54Gly)	not provided [RCV001998529]	uncertain significance	19	17338114	17338114	Human		name
151724172	CV1356949	single nucleotide variant	NM_032620.4(GTPBP3):c.169G>C (p.Ala57Pro)	Combined oxidative phosphorylation defect type 23 [RCV002272547]\|not provided [RCV001966374]	uncertain significance	19	17338123	17338123	Human	1	name
151870673	CV1371753	single nucleotide variant	NM_032620.4(GTPBP3):c.139G>A (p.Gly47Ser)	not provided [RCV001960378]	uncertain significance	19	17338093	17338093	Human		name
151870260	CV1375430	single nucleotide variant	NM_032620.4(GTPBP3):c.280G>A (p.Ala94Thr)	not provided [RCV001960328]	uncertain significance	19	17338234	17338234	Human		name
151853928	CV1376401	single nucleotide variant	NM_032620.4(GTPBP3):c.202C>T (p.Pro68Ser)	Inborn genetic diseases [RCV004976120]\|not provided [RCV001996305]	uncertain significance	19	17338156	17338156	Human	1	name
151797162	CV1376945	deletion	NM_032620.4(GTPBP3):c.512del (p.Ala171fs)	not provided [RCV001917368]	pathogenic	19	17338662	17338662	Human		name
151838580	CV1383323	single nucleotide variant	NM_032620.4(GTPBP3):c.224G>A (p.Arg75His)	not provided [RCV001921260]	uncertain significance	19	17338178	17338178	Human		name
151878827	CV1383565	single nucleotide variant	NM_032620.4(GTPBP3):c.239G>A (p.Arg80His)	not provided [RCV001907405]	uncertain significance	19	17338193	17338193	Human		name
151880326	CV1388459	single nucleotide variant	NM_032620.4(GTPBP3):c.140G>A (p.Gly47Asp)	not provided [RCV001982444]	uncertain significance	19	17338094	17338094	Human		name
151849772	CV1389630	single nucleotide variant	NM_032620.4(GTPBP3):c.1371G>A (p.Ala457=)	not provided [RCV001937191]	likely benign\|uncertain significance	19	17341595	17341595	Human		name
151882157	CV1402499	single nucleotide variant	NM_032620.4(GTPBP3):c.133C>T (p.Arg45Cys)	not provided [RCV001961861]	uncertain significance	19	17338087	17338087	Human		name
151742619	CV1405060	single nucleotide variant	NM_032620.4(GTPBP3):c.166C>T (p.Pro56Ser)	not provided [RCV001947247]	uncertain significance	19	17338120	17338120	Human		name
151721867	CV1406552	single nucleotide variant	NM_032620.4(GTPBP3):c.121T>A (p.Ser41Thr)	not provided [RCV002003792]	uncertain significance	19	17338075	17338075	Human		name
151723149	CV1414110	single nucleotide variant	NM_032620.4(GTPBP3):c.229G>A (p.Ala77Thr)	Inborn genetic diseases [RCV004976141]\|not provided [RCV002020458]	uncertain significance	19	17338183	17338183	Human	1	name
151767579	CV1415122	single nucleotide variant	NM_032620.4(GTPBP3):c.1056C>A (p.Thr352=)	not provided [RCV001929203]	likely benign\|uncertain significance	19	17341125	17341125	Human		name
151753195	CV1424608	single nucleotide variant	NM_032620.4(GTPBP3):c.260C>T (p.Ser87Phe)	not provided [RCV001894549]	uncertain significance	19	17338214	17338214	Human		name
151815608	CV1430933	single nucleotide variant	NM_032620.4(GTPBP3):c.178C>T (p.His60Tyr)	not provided [RCV001878710]	uncertain significance	19	17338132	17338132	Human		name
151885353	CV1431888	duplication	NM_032620.4(GTPBP3):c.925dup (p.Glu309fs)	not provided [RCV002037734]	pathogenic	19	17339547	17339548	Human		name
151805855	CV1440696	single nucleotide variant	NM_032620.4(GTPBP3):c.205C>G (p.Arg69Gly)	not provided [RCV001932730]	uncertain significance	19	17338159	17338159	Human		name
151819319	CV1450004	single nucleotide variant	NM_032620.4(GTPBP3):c.238C>A (p.Arg80Ser)	not provided [RCV001879059]	uncertain significance	19	17338192	17338192	Human		name
151841306	CV1464290	single nucleotide variant	NM_032620.4(GTPBP3):c.248G>A (p.Ser83Asn)	not provided [RCV001936151]	uncertain significance	19	17338202	17338202	Human		name
151871750	CV1470481	single nucleotide variant	NM_032620.4(GTPBP3):c.289C>T (p.Leu97Phe)	not provided [RCV001925313]	uncertain significance	19	17338243	17338243	Human		name
151871082	CV1488711	single nucleotide variant	NM_032620.4(GTPBP3):c.136T>G (p.Cys46Gly)	not provided [RCV002035674]	uncertain significance	19	17338090	17338090	Human		name
151743877	CV1494686	single nucleotide variant	NM_032620.4(GTPBP3):c.1071G>A (p.Val357=)	not provided [RCV001985516]	likely benign\|uncertain significance	19	17341140	17341140	Human		name
151765389	CV1495788	single nucleotide variant	NM_032620.4(GTPBP3):c.277C>T (p.Arg93Cys)	not provided [RCV001873921]	uncertain significance	19	17338231	17338231	Human		name
151838474	CV1501393	single nucleotide variant	NM_032620.4(GTPBP3):c.1200G>A (p.Thr400=)	not provided [RCV001977406]	likely benign\|uncertain significance	19	17341269	17341269	Human		name
151753119	CV1508631	single nucleotide variant	NM_032620.4(GTPBP3):c.175G>A (p.Gly59Ser)	not provided [RCV001986496]	uncertain significance	19	17338129	17338129	Human		name
151818886	CV1513869	single nucleotide variant	NM_032620.4(GTPBP3):c.155G>C (p.Arg52Pro)	not provided [RCV001933948]	uncertain significance	19	17338109	17338109	Human		name
151729814	CV1515890	single nucleotide variant	NM_032620.4(GTPBP3):c.203C>G (p.Pro68Arg)	not provided [RCV001984079]	uncertain significance	19	17338157	17338157	Human		name
152153627	CV1523151	single nucleotide variant	NM_032620.4(GTPBP3):c.1116G>A (p.Val372=)	not provided [RCV002179824]	likely benign	19	17341185	17341185	Human		name
152115294	CV1526068	single nucleotide variant	NM_032620.4(GTPBP3):c.1282C>T (p.Leu428=)	not provided [RCV002174851]	likely benign	19	17341506	17341506	Human		name
152125747	CV1532384	single nucleotide variant	NM_032620.4(GTPBP3):c.1131C>T (p.Asp377=)	not provided [RCV002118429]	likely benign	19	17341200	17341200	Human		name
152142348	CV1538213	single nucleotide variant	NM_032620.4(GTPBP3):c.1125G>A (p.Lys375=)	not provided [RCV002219541]	likely benign	19	17341194	17341194	Human		name
152073263	CV1556582	single nucleotide variant	NM_032620.4(GTPBP3):c.1335C>T (p.Leu445=)	not provided [RCV002111751]	likely benign	19	17341559	17341559	Human		name
152047053	CV1561544	single nucleotide variant	NM_032620.4(GTPBP3):c.1014T>C (p.Ala338=)	not provided [RCV002108465]	likely benign	19	17341083	17341083	Human		name
152153051	CV1577681	single nucleotide variant	NM_032620.4(GTPBP3):c.1431C>T (p.Thr477=)	not provided [RCV002122027]	likely benign	19	17341655	17341655	Human		name
152090828	CV1594172	single nucleotide variant	NM_032620.4(GTPBP3):c.1344C>T (p.Tyr448=)	not provided [RCV002171800]	likely benign	19	17341568	17341568	Human		name
152055915	CV1596605	single nucleotide variant	NM_032620.4(GTPBP3):c.1380G>T (p.Ala460=)	not provided [RCV002127771]	likely benign	19	17341604	17341604	Human		name
152161427	CV1606158	single nucleotide variant	NM_032620.4(GTPBP3):c.1266G>T (p.Pro422=)	not provided [RCV002181002]	likely benign	19	17341490	17341490	Human		name
152140221	CV1613819	single nucleotide variant	NM_032620.4(GTPBP3):c.1353A>G (p.Ser451=)	not provided [RCV002084059]	likely benign	19	17341577	17341577	Human		name
152104776	CV1614561	single nucleotide variant	NM_032620.4(GTPBP3):c.1230G>T (p.Ala410=)	not provided [RCV002079453]	likely benign	19	17341299	17341299	Human		name
152132634	CV1621429	single nucleotide variant	NM_032620.4(GTPBP3):c.1155T>C (p.Gly385=)	not provided [RCV002218282]	likely benign	19	17341224	17341224	Human		name
152048870	CV1627624	single nucleotide variant	NM_032620.4(GTPBP3):c.1104C>T (p.Arg368=)	not provided [RCV002108690]	likely benign	19	17341173	17341173	Human		name
152047370	CV1656774	single nucleotide variant	NM_032620.4(GTPBP3):c.1266G>A (p.Pro422=)	not provided [RCV002126805]	likely benign	19	17341490	17341490	Human		name
152077915	CV1661099	single nucleotide variant	NM_032620.4(GTPBP3):c.1185G>C (p.Leu395=)	not provided [RCV002130472]	likely benign	19	17341254	17341254	Human		name
155707464	CV1778427	single nucleotide variant	NM_032620.4(GTPBP3):c.227A>G (p.His76Arg)	not provided [RCV002296032]	uncertain significance	19	17338181	17338181	Human		name
155688600	CV1784735	single nucleotide variant	NM_032620.4(GTPBP3):c.181G>C (p.Ala61Pro)	Hypertrophic cardiomyopathy [RCV002319772]	uncertain significance	19	17338135	17338135	Human	2	name
329954678	CV1860021	single nucleotide variant	NM_032620.4(GTPBP3):c.187C>T (p.Arg63Ter)	Combined oxidative phosphorylation defect type 23 [RCV003233012]	pathogenic	19	17338141	17338141	Human	1	name
156294470	CV1926346	single nucleotide variant	NM_032620.4(GTPBP3):c.1195C>T (p.Leu399=)	not provided [RCV002647341]	likely benign	19	17341264	17341264	Human		name
156216060	CV1931138	single nucleotide variant	NM_032620.4(GTPBP3):c.1410G>T (p.Arg470=)	not provided [RCV002644203]	likely benign	19	17341634	17341634	Human		name
156250993	CV1993374	single nucleotide variant	NM_032620.4(GTPBP3):c.1236G>A (p.Arg412=)	not provided [RCV002627449]	likely benign	19	17341305	17341305	Human		name
156024602	CV2025624	deletion	NM_032620.4(GTPBP3):c.836del (p.Pro279fs)	not provided [RCV002735535]	pathogenic	19	17339458	17339458	Human		name
155910320	CV2032859	single nucleotide variant	NM_032620.4(GTPBP3):c.1458G>A (p.Gln486=)	not provided [RCV002750086]	likely benign	19	17341682	17341682	Human		name
156326089	CV2068592	single nucleotide variant	NM_032620.4(GTPBP3):c.1251A>G (p.Ala417=)	not provided [RCV002835023]	uncertain significance	19	17341320	17341320	Human		name
156156599	CV2118206	single nucleotide variant	NM_032620.4(GTPBP3):c.1029T>C (p.Ser343=)	not provided [RCV002929090]	uncertain significance	19	17341098	17341098	Human		name
156303319	CV2129617	deletion	NM_032620.4(GTPBP3):c.802del (p.Leu268fs)	not provided [RCV002962245]	pathogenic	19	17339259	17339259	Human		name
155905360	CV2134491	single nucleotide variant	NM_032620.4(GTPBP3):c.1314C>T (p.Leu438=)	GTPBP3-related disorder [RCV003943683]\|not provided [RCV002967678]	likely benign	19	17341538	17341538	Human	1	name , trait , alternate_id
155939565	CV2142817	single nucleotide variant	NM_032620.4(GTPBP3):c.263G>C (p.Gly88Ala)	not provided [RCV002993962]	uncertain significance	19	17338217	17338217	Human		name
156123634	CV2148244	single nucleotide variant	NM_032620.4(GTPBP3):c.1146G>A (p.Glu382=)	not provided [RCV003003080]	likely benign\|uncertain significance	19	17341215	17341215	Human		name
156295797	CV2153127	single nucleotide variant	NM_032620.4(GTPBP3):c.1212G>C (p.Leu404=)	not provided [RCV003010157]	likely benign	19	17341281	17341281	Human		name
156312197	CV2165596	deletion	NM_032620.4(GTPBP3):c.356del (p.Pro119fs)	not provided [RCV003028648]	pathogenic	19	17338417	17338417	Human		name
156255048	CV2185218	single nucleotide variant	NM_032620.4(GTPBP3):c.290T>C (p.Leu97Pro)	not provided [RCV003043926]	uncertain significance	19	17338244	17338244	Human		name
155990901	CV2281010	single nucleotide variant	NM_032620.4(GTPBP3):c.170C>A (p.Ala57Asp)	Inborn genetic diseases [RCV002882429]	uncertain significance	19	17338124	17338124	Human	1	name
401730634	CV2689760	single nucleotide variant	NM_032620.4(GTPBP3):c.128A>T (p.Gln43Leu)	Inborn genetic diseases [RCV003289615]\|not provided [RCV005409926]	uncertain significance	19	17338082	17338082	Human	1	name
401723844	CV2737893	single nucleotide variant	NM_032620.4(GTPBP3):c.263G>A (p.Gly88Glu)	Inborn genetic diseases [RCV004634247]\|not provided [RCV003315065]	uncertain significance	19	17338217	17338217	Human	1	name
401903686	CV2811805	single nucleotide variant	NM_001195422.1(GTPBP3):c.36T>C (p.Phe12=)	not provided [RCV003415139]	likely benign	19	17335039	17335039	Human		name
401905371	CV2831441	deletion	NM_032620.4(GTPBP3):c.967del (p.Arg323fs)	Combined oxidative phosphorylation defect type 23 [RCV003444433]	likely pathogenic	19	17339590	17339590	Human	1	name
402483606	CV2860868	single nucleotide variant	NM_032620.4(GTPBP3):c.1059C>G (p.Val353=)	not provided [RCV003544263]	likely benign	19	17341128	17341128	Human		name
402501770	CV2869193	single nucleotide variant	NM_032620.4(GTPBP3):c.1461C>T (p.Asp487=)	not provided [RCV003545977]	likely benign	19	17341685	17341685	Human		name
405200581	CV2873325	single nucleotide variant	NM_032620.4(GTPBP3):c.1446C>T (p.Asp482=)	not provided [RCV003551345]	likely benign	19	17341670	17341670	Human		name
405071035	CV2941010	single nucleotide variant	NM_032620.4(GTPBP3):c.1117C>T (p.Leu373=)	not provided [RCV003663984]	likely benign	19	17341186	17341186	Human		name
405076139	CV2948615	single nucleotide variant	NM_032620.4(GTPBP3):c.1059C>T (p.Val353=)	not provided [RCV003664269]	likely benign	19	17341128	17341128	Human		name
405018097	CV2991889	single nucleotide variant	NM_032620.4(GTPBP3):c.1338C>T (p.Gly446=)	not provided [RCV003694587]	likely benign	19	17341562	17341562	Human		name
405249433	CV3000715	single nucleotide variant	NM_032620.4(GTPBP3):c.1431C>A (p.Thr477=)	not provided [RCV003721345]	likely benign	19	17341655	17341655	Human		name
405240550	CV3004457	single nucleotide variant	NM_032620.4(GTPBP3):c.1392C>T (p.Ala464=)	not provided [RCV003719106]	likely benign	19	17341616	17341616	Human		name
405203215	CV3036287	deletion	NM_032620.4(GTPBP3):c.610del (p.Ala204fs)	not provided [RCV003707582]	pathogenic	19	17338971	17338971	Human		name
405220753	CV3060008	deletion	NM_032620.4(GTPBP3):c.939del (p.Val314fs)	not provided [RCV003733269]	pathogenic	19	17339562	17339562	Human		name
405246602	CV3158536	single nucleotide variant	NM_032620.4(GTPBP3):c.1389G>T (p.Val463=)	not provided [RCV003868878]	likely benign	19	17341613	17341613	Human		name
407464592	CV3443616	single nucleotide variant	NM_032620.4(GTPBP3):c.286G>C (p.Val96Leu)	Inborn genetic diseases [RCV004635119]	uncertain significance	19	17338240	17338240	Human	1	name
407454521	CV3495352	deletion	NM_032620.4(GTPBP3):c.846del (p.Thr283fs)	Combined oxidative phosphorylation defect type 23 [RCV004691662]	likely pathogenic	19	17339469	17339469	Human	1	name
596946511	CV3548358	single nucleotide variant	NM_032620.4(GTPBP3):c.1449C>T (p.Ile483=)	not provided [RCV004810184]	likely benign	19	17341673	17341673	Human		name
12742857	CV360405	single nucleotide variant	NM_032620.4(GTPBP3):c.155G>A (p.Arg52Gln)	not provided [RCV000414695]	likely pathogenic	19	17338109	17338109	Human		name
597690023	CV3688900	single nucleotide variant	NM_032620.4(GTPBP3):c.203C>T (p.Pro68Leu)	Inborn genetic diseases [RCV004985645]	uncertain significance	19	17338157	17338157	Human	1	name
12846671	CV377555	single nucleotide variant	NM_032620.4(GTPBP3):c.1366C>T (p.Leu456=)	not provided [RCV000873718]\|not specified [RCV000442085]	benign	19	17341590	17341590	Human		name
597901535	CV3779115	single nucleotide variant	NM_032620.4(GTPBP3):c.1449C>A (p.Ile483=)	not provided [RCV005127192]	likely benign	19	17341673	17341673	Human		name
597879690	CV3826289	single nucleotide variant	NM_032620.4(GTPBP3):c.1209G>A (p.Gly403=)	not provided [RCV005177985]	likely benign	19	17341278	17341278	Human		name
597975490	CV3828536	single nucleotide variant	NM_032620.4(GTPBP3):c.1285C>T (p.Leu429=)	not provided [RCV005169165]	likely benign	19	17341509	17341509	Human		name
597932390	CV3862041	single nucleotide variant	NM_032620.4(GTPBP3):c.1440C>T (p.Ile480=)	not provided [RCV005206905]	likely benign	19	17341664	17341664	Human		name
13530899	CV507639	single nucleotide variant	NM_032620.4(GTPBP3):c.1110C>T (p.Leu370=)	not provided [RCV002066596]\|not specified [RCV000600871]	likely benign	19	17341179	17341179	Human		name
13536561	CV507642	single nucleotide variant	NM_032620.4(GTPBP3):c.1323C>T (p.Cys441=)	not provided [RCV002529764]\|not specified [RCV000609179]	likely benign	19	17341547	17341547	Human		name
15017062	CV681812	single nucleotide variant	NM_032620.4(GTPBP3):c.215C>T (p.Pro72Leu)	Combined oxidative phosphorylation defect type 23 [RCV000855413]\|not provided [RCV001858522]	uncertain significance	19	17338169	17338169	Human	1	name
15118088	CV694350	single nucleotide variant	NM_032620.4(GTPBP3):c.256C>T (p.Arg86Cys)	GTPBP3-related disorder [RCV003955708]\|Inborn genetic diseases [RCV003169184]\|not provided [RCV000873620]	likely benign	19	17338210	17338210	Human	2	name , trait , alternate_id
15130922	CV694356	single nucleotide variant	NM_032620.4(GTPBP3):c.1230G>A (p.Ala410=)	not provided [RCV000875897]	benign\|likely benign	19	17341299	17341299	Human		name
15125267	CV694357	single nucleotide variant	NM_032620.4(GTPBP3):c.1254G>C (p.Val418=)	GTPBP3-related disorder [RCV003955725]\|not provided [RCV000874922]	likely benign	19	17341478	17341478	Human	1	name , trait , alternate_id
15152301	CV728018	single nucleotide variant	NM_032620.4(GTPBP3):c.1056C>T (p.Thr352=)	not provided [RCV000879779]	likely benign	19	17341125	17341125	Human		name
15097986	CV728019	single nucleotide variant	NM_032620.4(GTPBP3):c.1434G>A (p.Glu478=)	not provided [RCV000891631]	likely benign	19	17341658	17341658	Human		name
40888382	CV971482	single nucleotide variant	NM_032620.4(GTPBP3):c.221C>A (p.Ala74Asp)	Combined oxidative phosphorylation defect type 23 [RCV004799484]	uncertain significance	19	17338175	17338175	Human	1	name
150426414	CV1188723	single nucleotide variant	NM_032620.4(GTPBP3):c.836C>T (p.Pro279Leu)	Inborn genetic diseases [RCV002570725]\|not provided [RCV001559552]	uncertain significance	19	17339461	17339461	Human	1	name
151727692	CV1241986	single nucleotide variant	NM_032620.4(GTPBP3):c.413C>A (p.Ala138Glu)	Combined oxidative phosphorylation defect type 23 [RCV001844355]	uncertain significance	19	17338563	17338563	Human	1	name
150530754	CV1293518	single nucleotide variant	NM_032620.4(GTPBP3):c.931G>A (p.Val311Met)	Inborn genetic diseases [RCV005341036]\|not provided [RCV001756739]	uncertain significance	19	17339556	17339556	Human	1	name
151347987	CV1325214	single nucleotide variant	NM_032620.4(GTPBP3):c.716A>C (p.Asp239Ala)	not provided [RCV001813856]	uncertain significance	19	17339174	17339174	Human		name
151872342	CV1336759	single nucleotide variant	NM_032620.4(GTPBP3):c.565C>T (p.Arg189Cys)	not provided [RCV001885431]	conflicting interpretations of pathogenicity\|uncertain significance	19	17338715	17338715	Human		name
151726518	CV1339715	single nucleotide variant	NM_032620.4(GTPBP3):c.727G>A (p.Gly243Arg)	not provided [RCV002004323]	uncertain significance	19	17339185	17339185	Human		name
151781692	CV1341920	single nucleotide variant	NM_032620.4(GTPBP3):c.715G>A (p.Asp239Asn)	not provided [RCV001897301]	uncertain significance	19	17339173	17339173	Human		name
151859252	CV1343943	single nucleotide variant	NM_032620.4(GTPBP3):c.554G>T (p.Gly185Val)	not provided [RCV002034162]	uncertain significance	19	17338704	17338704	Human		name
151785677	CV1348818	single nucleotide variant	NM_032620.4(GTPBP3):c.910A>G (p.Thr304Ala)	not provided [RCV001897661]	uncertain significance	19	17339535	17339535	Human		name
151785887	CV1348844	single nucleotide variant	NM_032620.4(GTPBP3):c.781G>A (p.Gly261Ser)	not provided [RCV001897683]	uncertain significance	19	17339239	17339239	Human		name
151796588	CV1352470	single nucleotide variant	NM_032620.4(GTPBP3):c.467C>T (p.Thr156Ile)	not provided [RCV001876997]	uncertain significance	19	17338617	17338617	Human		name
151869031	CV1352900	single nucleotide variant	NM_032620.4(GTPBP3):c.554G>A (p.Gly185Asp)	Combined oxidative phosphorylation defect type 23 [RCV005023402]\|not provided [RCV001906233]	uncertain significance	19	17338704	17338704	Human	1	name
151726772	CV1353038	single nucleotide variant	NM_032620.4(GTPBP3):c.547G>C (p.Glu183Gln)	Inborn genetic diseases [RCV004041640]\|not provided [RCV001891819]	uncertain significance	19	17338697	17338697	Human	1	name
151865847	CV1357939	single nucleotide variant	NM_032620.4(GTPBP3):c.619G>A (p.Asp207Asn)	not provided [RCV001905873]\|not specified [RCV004526874]	uncertain significance	19	17338981	17338981	Human		name
151809464	CV1362927	single nucleotide variant	NM_032620.4(GTPBP3):c.665C>A (p.Ala222Asp)	Inborn genetic diseases [RCV003170477]\|not provided [RCV001991679]\|not specified [RCV003388075]	uncertain significance	19	17339123	17339123	Human	1	name
151813337	CV1366267	single nucleotide variant	NM_032620.4(GTPBP3):c.725G>A (p.Arg242His)	Inborn genetic diseases [RCV002560526]\|not provided [RCV001933423]	uncertain significance	19	17339183	17339183	Human	1	name
151747190	CV1367867	single nucleotide variant	NM_032620.4(GTPBP3):c.665C>G (p.Ala222Gly)	not provided [RCV001927109]	uncertain significance	19	17339123	17339123	Human		name
151808943	CV1374784	single nucleotide variant	NM_032620.4(GTPBP3):c.772C>G (p.Pro258Ala)	not provided [RCV001933003]	uncertain significance	19	17339230	17339230	Human		name
151830986	CV1379249	single nucleotide variant	NM_032620.4(GTPBP3):c.370G>A (p.Gly124Ser)	not provided [RCV001935052]	uncertain significance	19	17338433	17338433	Human		name
151771794	CV1380541	deletion	NM_032620.4(GTPBP3):c.1349del (p.Gln450fs)	not provided [RCV002025431]	uncertain significance	19	17341573	17341573	Human		name
151731946	CV1389979	single nucleotide variant	NM_032620.4(GTPBP3):c.614A>G (p.Tyr205Cys)	not provided [RCV001910961]	conflicting interpretations of pathogenicity\|uncertain significance	19	17338976	17338976	Human		name
151857126	CV1401983	single nucleotide variant	NM_032620.4(GTPBP3):c.958C>T (p.Arg320Trp)	not provided [RCV002017316]	uncertain significance	19	17339583	17339583	Human		name
151849019	CV1402931	single nucleotide variant	NM_032620.4(GTPBP3):c.935G>A (p.Gly312Glu)	Inborn genetic diseases [RCV004041477]\|not provided [RCV001882348]	uncertain significance	19	17339560	17339560	Human	1	name
151802835	CV1405091	single nucleotide variant	NM_032620.4(GTPBP3):c.890T>A (p.Phe297Tyr)	not provided [RCV001932468]	uncertain significance	19	17339515	17339515	Human		name
151769309	CV1410573	single nucleotide variant	NM_032620.4(GTPBP3):c.646G>A (p.Glu216Lys)	not provided [RCV001988083]	uncertain significance	19	17339008	17339008	Human		name
151823951	CV1412396	single nucleotide variant	NM_032620.4(GTPBP3):c.746G>A (p.Gly249Glu)	not provided [RCV001901157]	uncertain significance	19	17339204	17339204	Human		name
151799390	CV1426272	single nucleotide variant	NM_032620.4(GTPBP3):c.923G>A (p.Arg308Gln)	Inborn genetic diseases [RCV002573497]\|not provided [RCV001990811]	uncertain significance	19	17339548	17339548	Human	1	name
151872223	CV1436873	single nucleotide variant	NM_032620.4(GTPBP3):c.500C>T (p.Ala167Val)	not provided [RCV001998498]	uncertain significance	19	17338650	17338650	Human		name
151726180	CV1438124	single nucleotide variant	NM_032620.4(GTPBP3):c.682G>T (p.Ala228Ser)	Combined oxidative phosphorylation defect type 23 [RCV002482754]\|not provided [RCV001891746]	uncertain significance	19	17339140	17339140	Human	1	name
151786405	CV1446301	single nucleotide variant	NM_032620.4(GTPBP3):c.724C>T (p.Arg242Cys)	not provided [RCV002010229]	uncertain significance	19	17339182	17339182	Human		name
151745871	CV1457290	single nucleotide variant	NM_032620.4(GTPBP3):c.769C>A (p.Pro257Thr)	not provided [RCV001947582]	uncertain significance	19	17339227	17339227	Human		name
151876346	CV1458626	single nucleotide variant	NM_032620.4(GTPBP3):c.776A>G (p.Asn259Ser)	Combined oxidative phosphorylation defect type 23 [RCV003232995]\|not provided [RCV001998983]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	19	17339234	17339234	Human	1	name
151840748	CV1464156	single nucleotide variant	NM_032620.4(GTPBP3):c.713G>C (p.Arg238Pro)	not provided [RCV001936081]	uncertain significance	19	17339171	17339171	Human		name
151798319	CV1470830	single nucleotide variant	NM_032620.4(GTPBP3):c.506C>G (p.Thr169Arg)	not provided [RCV001898823]	uncertain significance	19	17338656	17338656	Human		name
151725524	CV1474721	single nucleotide variant	NM_032620.4(GTPBP3):c.401G>A (p.Gly134Glu)	Inborn genetic diseases [RCV002557692]\|not provided [RCV001945469]	uncertain significance	19	17338551	17338551	Human	1	name
151865091	CV1477415	single nucleotide variant	NM_032620.4(GTPBP3):c.610G>A (p.Ala204Thr)	not provided [RCV001939061]	uncertain significance	19	17338972	17338972	Human		name
151849289	CV1480471	single nucleotide variant	NM_032620.4(GTPBP3):c.871C>A (p.Pro291Thr)	not provided [RCV001903871]	uncertain significance	19	17339496	17339496	Human		name
151726740	CV1482329	single nucleotide variant	NM_032620.4(GTPBP3):c.472G>A (p.Val158Met)	not provided [RCV002020870]	uncertain significance	19	17338622	17338622	Human		name
151795178	CV1482803	single nucleotide variant	NM_032620.4(GTPBP3):c.773C>G (p.Pro258Arg)	not provided [RCV002047472]	uncertain significance	19	17339231	17339231	Human		name
151865911	CV1484355	single nucleotide variant	NM_032620.4(GTPBP3):c.853C>T (p.Arg285Cys)	not provided [RCV001959822]	uncertain significance	19	17339478	17339478	Human		name
151806048	CV1486935	single nucleotide variant	NM_032620.4(GTPBP3):c.931G>T (p.Val311Leu)	Inborn genetic diseases [RCV004042727]\|not provided [RCV001918153]	uncertain significance	19	17339556	17339556	Human	1	name
151726902	CV1488352	single nucleotide variant	NM_032620.4(GTPBP3):c.907G>C (p.Asp303His)	not provided [RCV001966705]	uncertain significance	19	17339532	17339532	Human		name
151761545	CV1496446	single nucleotide variant	NM_032620.4(GTPBP3):c.959G>A (p.Arg320Gln)	Inborn genetic diseases [RCV004975756]\|not provided [RCV001895378]	uncertain significance	19	17339584	17339584	Human	1	name
151731966	CV1512451	single nucleotide variant	NM_032620.4(GTPBP3):c.521G>A (p.Arg174Gln)	not provided [RCV002041294]	uncertain significance	19	17338671	17338671	Human		name
151725128	CV1515097	single nucleotide variant	NM_032620.4(GTPBP3):c.839A>G (p.Glu280Gly)	not provided [RCV001983586]	uncertain significance	19	17339464	17339464	Human		name
153345611	CV1691193	single nucleotide variant	NM_032620.4(GTPBP3):c.521G>C (p.Arg174Pro)	Combined oxidative phosphorylation defect type 23 [RCV002272674]	likely pathogenic	19	17338671	17338671	Human	1	name
155749320	CV1775467	single nucleotide variant	NM_032620.4(GTPBP3):c.755T>C (p.Val252Ala)	not provided [RCV002304527]	uncertain significance	19	17339213	17339213	Human		name
9831492	CV178780	duplication	NM_032620.4(GTPBP3):c.1291dup (p.Arg431fs)	Combined oxidative phosphorylation defect type 23 [RCV000157590]	pathogenic\|likely pathogenic\|not provided	19	17341512	17341513	Human	1	name
9832593	CV178782	single nucleotide variant	NM_032620.4(GTPBP3):c.476A>T (p.Glu159Val)	Combined oxidative phosphorylation defect type 23 [RCV000157592]	pathogenic\|not provided	19	17338626	17338626	Human	1	name
9832594	CV178783	single nucleotide variant	NM_032620.4(GTPBP3):c.964G>C (p.Ala322Pro)	Combined oxidative phosphorylation defect type 23 [RCV000157593]\|not provided [RCV001850189]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	19	17339589	17339589	Human	1	name
329954567	CV1859715	single nucleotide variant	NM_032620.4(GTPBP3):c.413C>T (p.Ala138Val)	See cases [RCV003232628]	likely pathogenic	19	17338563	17338563	Human		name
155796010	CV1861594	single nucleotide variant	NM_032620.4(GTPBP3):c.512C>A (p.Ala171Glu)	not provided [RCV002469877]	uncertain significance	19	17338662	17338662	Human		name
156396936	CV1870948	single nucleotide variant	NM_032620.4(GTPBP3):c.436C>T (p.Arg146Trp)	not provided [RCV003068712]	uncertain significance	19	17338586	17338586	Human		name
155969252	CV1968100	single nucleotide variant	NM_032620.4(GTPBP3):c.407G>T (p.Arg136Leu)	not provided [RCV002617105]	uncertain significance	19	17338557	17338557	Human		name
156111947	CV1988831	single nucleotide variant	NM_032620.4(GTPBP3):c.907G>T (p.Asp303Tyr)	not provided [RCV002622613]	uncertain significance	19	17339532	17339532	Human		name
156388039	CV1995961	single nucleotide variant	NM_032620.4(GTPBP3):c.680G>A (p.Arg227Gln)	not provided [RCV002654138]	uncertain significance	19	17339138	17339138	Human		name
155949181	CV2017731	single nucleotide variant	NM_032620.4(GTPBP3):c.542A>G (p.Asp181Gly)	not provided [RCV002685921]	uncertain significance	19	17338692	17338692	Human		name
156209529	CV2032216	single nucleotide variant	NM_032620.4(GTPBP3):c.827T>C (p.Ile276Thr)	not provided [RCV002711710]	uncertain significance	19	17339452	17339452	Human		name
156105973	CV2038507	single nucleotide variant	NM_032620.4(GTPBP3):c.503A>C (p.Glu168Ala)	not provided [RCV002761493]	uncertain significance	19	17338653	17338653	Human		name
156224459	CV2064222	single nucleotide variant	NM_032620.4(GTPBP3):c.458T>A (p.Leu153Gln)	not provided [RCV002829815]	uncertain significance	19	17338608	17338608	Human		name
156056129	CV2064857	single nucleotide variant	NM_032620.4(GTPBP3):c.512C>T (p.Ala171Val)	not provided [RCV002846603]	uncertain significance	19	17338662	17338662	Human		name
156244992	CV2086163	deletion	NM_032620.4(GTPBP3):c.1032del (p.Ser345fs)	not provided [RCV002876737]	pathogenic	19	17341099	17341099	Human		name
156033419	CV2097591	single nucleotide variant	NM_032620.4(GTPBP3):c.544G>A (p.Gly182Arg)	not provided [RCV002885501]	uncertain significance	19	17338694	17338694	Human		name
156303821	CV2105121	single nucleotide variant	NM_032620.4(GTPBP3):c.985G>C (p.Ala329Pro)	not provided [RCV002922715]	uncertain significance	19	17341054	17341054	Human		name
156159940	CV2128646	single nucleotide variant	NM_032620.4(GTPBP3):c.785A>G (p.Lys262Arg)	not provided [RCV002929205]	uncertain significance	19	17339243	17339243	Human		name
155942083	CV2129927	single nucleotide variant	NM_032620.4(GTPBP3):c.763A>T (p.Thr255Ser)	not provided [RCV002971354]	uncertain significance	19	17339221	17339221	Human		name
155988956	CV2133430	single nucleotide variant	NM_032620.4(GTPBP3):c.805C>T (p.Leu269Phe)	not provided [RCV002996473]	uncertain significance	19	17339263	17339263	Human		name
156029799	CV2135407	single nucleotide variant	NM_032620.4(GTPBP3):c.833C>T (p.Ser278Phe)	Inborn genetic diseases [RCV005351062]\|not provided [RCV002999092]	uncertain significance	19	17339458	17339458	Human	1	name
156335597	CV2168369	single nucleotide variant	NM_032620.4(GTPBP3):c.364G>A (p.Val122Met)	not provided [RCV003030007]	uncertain significance	19	17338427	17338427	Human		name
156016584	CV2177536	single nucleotide variant	NM_032620.4(GTPBP3):c.473T>A (p.Val158Glu)	not provided [RCV003035516]	uncertain significance	19	17338623	17338623	Human		name
156181907	CV2182394	single nucleotide variant	NM_032620.4(GTPBP3):c.479G>A (p.Gly160Glu)	not provided [RCV003057556]	uncertain significance	19	17338629	17338629	Human		name
156113749	CV2397090	single nucleotide variant	NM_032620.4(GTPBP3):c.317C>G (p.Thr106Ser)	Inborn genetic diseases [RCV002739885]	uncertain significance	19	17338380	17338380	Human	1	name
243049415	CV2419460	single nucleotide variant	NM_032620.4(GTPBP3):c.628G>A (p.Glu210Lys)	See cases [RCV003156194]	likely pathogenic	19	17338990	17338990	Human		name
329401095	CV2446117	single nucleotide variant	NM_032620.4(GTPBP3):c.877G>T (p.Asp293Tyr)	Inborn genetic diseases [RCV003198099]	uncertain significance	19	17339502	17339502	Human	1	name
11632564	CV264736	deletion	NM_032620.4(GTPBP3):c.1049del (p.Leu350fs)	not provided [RCV000268208]	pathogenic	19	17341118	17341118	Human		name
401726742	CV2695783	single nucleotide variant	NM_032620.4(GTPBP3):c.887G>A (p.Gly296Glu)	Inborn genetic diseases [RCV003246466]	uncertain significance	19	17339512	17339512	Human	1	name
401898690	CV2782596	single nucleotide variant	NM_032620.4(GTPBP3):c.925G>C (p.Glu309Gln)	Inborn genetic diseases [RCV003376848]	uncertain significance	19	17339550	17339550	Human	1	name
405134795	CV2952955	single nucleotide variant	NM_032620.4(GTPBP3):c.523C>T (p.Gln175Ter)	not provided [RCV003668695]	pathogenic	19	17338673	17338673	Human		name
405234742	CV2972427	single nucleotide variant	NM_032620.4(GTPBP3):c.886G>T (p.Gly296Ter)	not provided [RCV003682844]	pathogenic	19	17339511	17339511	Human		name
405247973	CV2977046	single nucleotide variant	NM_032620.4(GTPBP3):c.307C>T (p.Gln103Ter)	not provided [RCV003685851]	pathogenic	19	17338370	17338370	Human		name
402504267	CV3007317	single nucleotide variant	NM_032620.4(GTPBP3):c.743C>G (p.Ser248Ter)	not provided [RCV003688810]	pathogenic	19	17339201	17339201	Human		name
405171635	CV3150076	single nucleotide variant	NM_032620.4(GTPBP3):c.689A>C (p.Gln230Pro)	not provided [RCV003841547]	pathogenic	19	17339147	17339147	Human		name
405719435	CV3255619	single nucleotide variant	NM_032620.4(GTPBP3):c.541G>T (p.Asp181Tyr)	Inborn genetic diseases [RCV004388576]	uncertain significance	19	17338691	17338691	Human	1	name
407464590	CV3443615	single nucleotide variant	NM_032620.4(GTPBP3):c.967C>T (p.Arg323Trp)	Inborn genetic diseases [RCV004635118]	uncertain significance	19	17339592	17339592	Human	1	name
408380656	CV3523620	single nucleotide variant	NM_032620.4(GTPBP3):c.760G>C (p.Val254Leu)	not provided [RCV004766018]	uncertain significance	19	17339218	17339218	Human		name
408381600	CV3526544	single nucleotide variant	NM_032620.4(GTPBP3):c.922C>T (p.Arg308Trp)	not provided [RCV004771857]	uncertain significance	19	17339547	17339547	Human		name
597662410	CV3688899	single nucleotide variant	NM_032620.4(GTPBP3):c.833C>A (p.Ser278Tyr)	Inborn genetic diseases [RCV004977767]	uncertain significance	19	17339458	17339458	Human	1	name
597662419	CV3688902	single nucleotide variant	NM_032620.4(GTPBP3):c.323A>G (p.Glu108Gly)	Inborn genetic diseases [RCV004977769]	uncertain significance	19	17338386	17338386	Human	1	name
12843633	CV376360	single nucleotide variant	NM_032620.4(GTPBP3):c.749T>C (p.Val250Ala)	Combined oxidative phosphorylation defect type 23 [RCV001702641]\|not provided [RCV002061670]\|not specified [RCV000436556]	benign	19	17339207	17339207	Human	1	name
597946794	CV3817767	single nucleotide variant	NM_032620.4(GTPBP3):c.946C>T (p.Gln316Ter)	not provided [RCV005160234]	pathogenic	19	17339571	17339571	Human		name
598253276	CV3974892	single nucleotide variant	NM_032620.4(GTPBP3):c.556C>G (p.His186Asp)	Inborn genetic diseases [RCV005346231]	uncertain significance	19	17338706	17338706	Human	1	name
598235550	CV3974893	single nucleotide variant	NM_032620.4(GTPBP3):c.958C>G (p.Arg320Gly)	Inborn genetic diseases [RCV005343070]	uncertain significance	19	17339583	17339583	Human	1	name
598253281	CV3974894	single nucleotide variant	NM_032620.4(GTPBP3):c.754G>A (p.Val252Ile)	Inborn genetic diseases [RCV005346232]	uncertain significance	19	17339212	17339212	Human	1	name
13508884	CV481393	single nucleotide variant	NM_032620.4(GTPBP3):c.440C>T (p.Ala147Val)	Combined oxidative phosphorylation defect type 23 [RCV000578407]\|not provided [RCV001860005]	likely pathogenic\|uncertain significance	19	17338590	17338590	Human	1	name
13508784	CV481394	single nucleotide variant	NM_032620.4(GTPBP3):c.517C>T (p.Arg173Trp)	Combined oxidative phosphorylation defect type 23 [RCV000578243]	likely pathogenic	19	17338667	17338667	Human	1	name
13508727	CV481395	single nucleotide variant	NM_032620.4(GTPBP3):c.643G>T (p.Glu215Ter)	Combined oxidative phosphorylation defect type 23 [RCV000578298]\|not provided [RCV002526935]	pathogenic	19	17339005	17339005	Human	1	name
14718867	CV647795	single nucleotide variant	NM_032620.4(GTPBP3):c.865G>T (p.Glu289Ter)	Combined oxidative phosphorylation defect type 23 [RCV004799236]\|not provided [RCV000795932]	pathogenic\|likely pathogenic	19	17339490	17339490	Human	1	name
15137416	CV694351	single nucleotide variant	NM_032620.4(GTPBP3):c.356C>T (p.Pro119Leu)	not provided [RCV000876993]	benign\|conflicting interpretations of pathogenicity	19	17338419	17338419	Human		name
15123162	CV694353	single nucleotide variant	NM_032620.4(GTPBP3):c.947A>G (p.Gln316Arg)	not provided [RCV000874544]	benign	19	17339572	17339572	Human		name
15134468	CV786106	single nucleotide variant	NM_032620.4(GTPBP3):c.484G>A (p.Ala162Thr)	Inborn genetic diseases [RCV003169513]\|not provided [RCV000981747]	likely benign\|conflicting interpretations of pathogenicity	19	17338634	17338634	Human	1	name
38462187	CV919840	single nucleotide variant	NM_032620.4(GTPBP3):c.392G>C (p.Ser131Thr)	Combined oxidative phosphorylation defect type 23 [RCV001198274]\|not provided [RCV001859202]	uncertain significance	19	17338542	17338542	Human	1	name
38461030	CV919841	single nucleotide variant	NM_032620.4(GTPBP3):c.673G>A (p.Glu225Lys)	Combined oxidative phosphorylation defect type 23 [RCV001197182]	uncertain significance	19	17339131	17339131	Human	1	name
38464052	CV961346	single nucleotide variant	NM_032620.4(GTPBP3):c.424G>A (p.Glu142Lys)	Combined oxidative phosphorylation defect type 23 [RCV001249431]	not provided	19	17338574	17338574	Human		name
126730653	CV1021837	single nucleotide variant	NM_032620.4(GTPBP3):c.1409G>A (p.Arg470Gln)	Combined oxidative phosphorylation defect type 23 [RCV001333497]\|not provided [RCV002546636]	uncertain significance	19	17341633	17341633	Human	1	name
151757399	CV1340388	single nucleotide variant	NM_032620.4(GTPBP3):c.1304A>C (p.Gln435Pro)	not provided [RCV001913595]	uncertain significance	19	17341528	17341528	Human		name
151798686	CV1347359	single nucleotide variant	NM_032620.4(GTPBP3):c.1432G>C (p.Glu478Gln)	Inborn genetic diseases [RCV004044748]\|not provided [RCV002027888]	uncertain significance	19	17341656	17341656	Human	1	name
151851660	CV1349665	single nucleotide variant	NM_032620.4(GTPBP3):c.1036A>C (p.Ser346Arg)	not provided [RCV001958076]	uncertain significance	19	17341105	17341105	Human		name
151822855	CV1351334	single nucleotide variant	NM_032620.4(GTPBP3):c.1394G>A (p.Arg465Gln)	not provided [RCV001992953]	uncertain significance	19	17341618	17341618	Human		name
151796124	CV1355948	single nucleotide variant	NM_032620.4(GTPBP3):c.1424G>C (p.Gly475Ala)	Combined oxidative phosphorylation defect type 23 [RCV002272563]\|not provided [RCV002027660]	uncertain significance	19	17341648	17341648	Human	1	name
151814860	CV1360631	single nucleotide variant	NM_032620.4(GTPBP3):c.1432G>A (p.Glu478Lys)	not provided [RCV001878637]	uncertain significance	19	17341656	17341656	Human		name
151740896	CV1367047	single nucleotide variant	NM_032620.4(GTPBP3):c.1439T>G (p.Ile480Ser)	not provided [RCV002022315]	uncertain significance	19	17341663	17341663	Human		name
151802291	CV1375283	single nucleotide variant	NM_032620.4(GTPBP3):c.1427G>C (p.Gly476Ala)	not provided [RCV001953041]	uncertain significance	19	17341651	17341651	Human		name
151799005	CV1376752	single nucleotide variant	NM_032620.4(GTPBP3):c.1163C>A (p.Pro388His)	not provided [RCV001932131]	uncertain significance	19	17341232	17341232	Human		name
151812320	CV1376842	single nucleotide variant	NM_032620.4(GTPBP3):c.1159G>A (p.Gly387Ser)	not provided [RCV001900074]	uncertain significance	19	17341228	17341228	Human		name
151866565	CV1381483	single nucleotide variant	NM_032620.4(GTPBP3):c.1216G>A (p.Gly406Ser)	not provided [RCV001905955]	uncertain significance	19	17341285	17341285	Human		name
151782916	CV1383558	single nucleotide variant	NM_032620.4(GTPBP3):c.1370C>G (p.Ala457Gly)	not provided [RCV001865128]	uncertain significance	19	17341594	17341594	Human		name
151744032	CV1406825	single nucleotide variant	NM_032620.4(GTPBP3):c.1082G>A (p.Ser361Asn)	not provided [RCV002006111]	uncertain significance	19	17341151	17341151	Human		name
151751440	CV1407007	single nucleotide variant	NM_032620.4(GTPBP3):c.1465T>C (p.Cys489Arg)	not provided [RCV002023418]	uncertain significance	19	17341689	17341689	Human		name
151744140	CV1408633	single nucleotide variant	NM_032620.4(GTPBP3):c.1202G>C (p.Gly401Ala)	Inborn genetic diseases [RCV004982829]\|not provided [RCV002042541]	uncertain significance	19	17341271	17341271	Human	1	name
151772758	CV1414257	single nucleotide variant	NM_032620.4(GTPBP3):c.1093A>G (p.Ser365Gly)	not provided [RCV001874613]	uncertain significance	19	17341162	17341162	Human		name
151812579	CV1417631	single nucleotide variant	NM_032620.4(GTPBP3):c.1393C>T (p.Arg465Trp)	not provided [RCV002029117]	uncertain significance	19	17341617	17341617	Human		name
151808223	CV1417847	single nucleotide variant	NM_032620.4(GTPBP3):c.1312C>T (p.Leu438Phe)	not provided [RCV001867752]	uncertain significance	19	17341536	17341536	Human		name
151762708	CV1433867	single nucleotide variant	NM_032620.4(GTPBP3):c.1073G>T (p.Gly358Val)	Inborn genetic diseases [RCV004982862]\|not provided [RCV002024562]	uncertain significance	19	17341142	17341142	Human	1	name
151718130	CV1458496	single nucleotide variant	NM_032620.4(GTPBP3):c.1135C>G (p.Leu379Val)	not provided [RCV002003236]	uncertain significance	19	17341204	17341204	Human		name
151836719	CV1466465	single nucleotide variant	NM_032620.4(GTPBP3):c.1192T>A (p.Cys398Ser)	not provided [RCV001902374]	uncertain significance	19	17341261	17341261	Human		name
151778009	CV1476966	single nucleotide variant	NM_032620.4(GTPBP3):c.1418G>A (p.Gly473Asp)	not provided [RCV001896974]	uncertain significance	19	17341642	17341642	Human		name
151885573	CV1507116	single nucleotide variant	NM_032620.4(GTPBP3):c.1044C>A (p.Asn348Lys)	not provided [RCV001962575]	uncertain significance	19	17341113	17341113	Human		name
151728013	CV1511870	single nucleotide variant	NM_032620.4(GTPBP3):c.1228G>A (p.Ala410Thr)	not provided [RCV001983911]	uncertain significance	19	17341297	17341297	Human		name
151869051	CV1516721	single nucleotide variant	NM_032620.4(GTPBP3):c.1292G>A (p.Arg431Gln)	not provided [RCV001981065]	uncertain significance	19	17341516	17341516	Human		name
153346548	CV1691829	single nucleotide variant	NM_032620.4(GTPBP3):c.1385G>A (p.Arg462Gln)	Combined oxidative phosphorylation defect type 23 [RCV002273312]	uncertain significance	19	17341609	17341609	Human	1	name
155688608	CV1784736	single nucleotide variant	NM_032620.4(GTPBP3):c.1199C>T (p.Thr400Met)	Hypertrophic cardiomyopathy [RCV002319773]	uncertain significance	19	17341268	17341268	Human	2	name
9831493	CV178781	single nucleotide variant	NM_032620.4(GTPBP3):c.1375G>A (p.Glu459Lys)	Combined oxidative phosphorylation defect type 23 [RCV000157591]	pathogenic\|not provided	19	17341599	17341599	Human	1	name
9831494	CV178784	single nucleotide variant	NM_032620.4(GTPBP3):c.1009G>C (p.Asp337His)	Combined oxidative phosphorylation defect type 23 [RCV000157594]	pathogenic\|not provided	19	17341078	17341078	Human	1	name
156362699	CV1905181	single nucleotide variant	NM_032620.4(GTPBP3):c.1379C>A (p.Ala460Glu)	not provided [RCV002602612]	uncertain significance	19	17341603	17341603	Human		name
156244775	CV1956901	single nucleotide variant	NM_032620.4(GTPBP3):c.1189T>C (p.Ser397Pro)	not provided [RCV002576346]	uncertain significance	19	17341258	17341258	Human		name
156348897	CV1968167	single nucleotide variant	NM_032620.4(GTPBP3):c.1384C>T (p.Arg462Trp)	not provided [RCV002601677]	uncertain significance	19	17341608	17341608	Human		name
156319967	CV1968333	single nucleotide variant	NM_032620.4(GTPBP3):c.1420G>A (p.Gly474Arg)	not provided [RCV002630279]	uncertain significance	19	17341644	17341644	Human		name
156110913	CV1988752	single nucleotide variant	NM_032620.4(GTPBP3):c.1401C>A (p.His467Gln)	not provided [RCV002622573]	uncertain significance	19	17341625	17341625	Human		name
156403727	CV1989648	single nucleotide variant	NM_032620.4(GTPBP3):c.1171C>A (p.Pro391Thr)	not provided [RCV002657900]	uncertain significance	19	17341240	17341240	Human		name
156106750	CV2008421	single nucleotide variant	NM_032620.4(GTPBP3):c.1131C>A (p.Asp377Glu)	not provided [RCV002695508]	uncertain significance	19	17341200	17341200	Human		name
156152573	CV2023121	single nucleotide variant	NM_032620.4(GTPBP3):c.1199C>G (p.Thr400Arg)	not provided [RCV002741271]	uncertain significance	19	17341268	17341268	Human		name
156327734	CV2116172	single nucleotide variant	NM_032620.4(GTPBP3):c.1418G>T (p.Gly473Val)	not provided [RCV002938183]	uncertain significance	19	17341642	17341642	Human		name
155974325	CV2135986	single nucleotide variant	NM_032620.4(GTPBP3):c.1066T>C (p.Ser356Pro)	Inborn genetic diseases [RCV004065305]\|not provided [RCV002995777]	likely benign\|uncertain significance	19	17341135	17341135	Human	1	name
155984778	CV2136811	single nucleotide variant	NM_032620.4(GTPBP3):c.1031C>T (p.Pro344Leu)	not provided [RCV002996278]	uncertain significance	19	17341100	17341100	Human		name
156156959	CV2150857	single nucleotide variant	NM_032620.4(GTPBP3):c.1373C>G (p.Ala458Gly)	not provided [RCV003023052]	uncertain significance	19	17341597	17341597	Human		name
156253202	CV2157850	single nucleotide variant	NM_032620.4(GTPBP3):c.1349A>G (p.Gln450Arg)	Inborn genetic diseases [RCV004068581]\|not provided [RCV003008514]	uncertain significance	19	17341573	17341573	Human	1	name
156078616	CV2161938	single nucleotide variant	NM_032620.4(GTPBP3):c.1270A>G (p.Thr424Ala)	not provided [RCV003037806]	uncertain significance	19	17341494	17341494	Human		name
156356078	CV2165914	single nucleotide variant	NM_032620.4(GTPBP3):c.1037G>A (p.Ser346Asn)	not provided [RCV003031241]	uncertain significance	19	17341106	17341106	Human		name
156191009	CV2166007	single nucleotide variant	NM_032620.4(GTPBP3):c.1166A>C (p.Asp389Ala)	not provided [RCV003041651]	uncertain significance	19	17341235	17341235	Human		name
156252572	CV2192881	single nucleotide variant	NM_001195422.1(GTPBP3):c.80C>A (p.Thr27Asn)	Inborn genetic diseases [RCV002668471]	uncertain significance	19	17335083	17335083	Human	1	name
155917384	CV2236537	single nucleotide variant	NM_032620.4(GTPBP3):c.1102C>A (p.Arg368Ser)	Inborn genetic diseases [RCV002772494]	uncertain significance	19	17341171	17341171	Human	1	name
155992867	CV2252057	single nucleotide variant	NM_032620.4(GTPBP3):c.1175C>T (p.Pro392Leu)	Inborn genetic diseases [RCV002778700]	uncertain significance	19	17341244	17341244	Human	1	name
401777996	CV2704516	single nucleotide variant	NM_032620.4(GTPBP3):c.1202G>A (p.Gly401Glu)	Inborn genetic diseases [RCV003286919]	uncertain significance	19	17341271	17341271	Human	1	name
401891666	CV2779289	single nucleotide variant	NM_032620.4(GTPBP3):c.1359C>A (p.Asp453Glu)	Inborn genetic diseases [RCV003355024]	uncertain significance	19	17341583	17341583	Human	1	name
404982988	CV3121537	single nucleotide variant	NM_032620.4(GTPBP3):c.1091A>T (p.Asp364Val)	not provided [RCV003826336]	uncertain significance	19	17341160	17341160	Human		name
405276433	CV3204139	single nucleotide variant	NM_001195422.1(GTPBP3):c.43G>C (p.Val15Leu)	GTPBP3-related disorder [RCV003944005]	likely benign	19	17335046	17335046	Human		name , trait , alternate_id
597662406	CV3688898	single nucleotide variant	NM_032620.4(GTPBP3):c.1280C>T (p.Pro427Leu)	Inborn genetic diseases [RCV004977766]	uncertain significance	19	17341504	17341504	Human	1	name
597662416	CV3688901	single nucleotide variant	NM_032620.4(GTPBP3):c.1007T>G (p.Leu336Arg)	Inborn genetic diseases [RCV004977768]	uncertain significance	19	17341076	17341076	Human	1	name
597662423	CV3688903	single nucleotide variant	NM_032620.4(GTPBP3):c.1213G>A (p.Asp405Asn)	Inborn genetic diseases [RCV004977770]	uncertain significance	19	17341282	17341282	Human	1	name
12846005	CV377550	single nucleotide variant	NM_032620.4(GTPBP3):c.1103G>A (p.Arg368His)	not provided [RCV002062297]\|not specified [RCV000440835]	benign	19	17341172	17341172	Human		name
617153667	CV4016741	single nucleotide variant	NM_032620.4(GTPBP3):c.1156C>G (p.Pro386Ala)	not provided [RCV005415838]	uncertain significance	19	17341225	17341225	Human		name
617152440	CV4018062	single nucleotide variant	NM_032620.4(GTPBP3):c.1242G>C (p.Glu414Asp)	not specified [RCV005417852]	uncertain significance	19	17341311	17341311	Human		name
13508883	CV481396	single nucleotide variant	NM_032620.4(GTPBP3):c.1112T>C (p.Leu371Pro)	Combined oxidative phosphorylation defect type 23 [RCV000578406]	likely pathogenic	19	17341181	17341181	Human	1	name
13510019	CV482187	single nucleotide variant	NM_032620.4(GTPBP3):c.1291C>T (p.Arg431Ter)	not provided [RCV000579289]	uncertain significance	19	17341515	17341515	Human		name
13531953	CV507239	single nucleotide variant	NM_032620.4(GTPBP3):c.1057G>A (p.Val353Ile)	not provided [RCV000709786]	benign\|likely benign\|not provided	19	17341126	17341126	Human		name
15017061	CV681813	single nucleotide variant	NM_032620.4(GTPBP3):c.1175C>G (p.Pro392Arg)	Combined oxidative phosphorylation defect type 23 [RCV000855412]\|GTPBP3-related disorder [RCV003928321]\|not provided [RCV000873739]	benign\|likely benign	19	17341244	17341244	Human	1	name , trait , alternate_id
15128010	CV694354	single nucleotide variant	NM_032620.4(GTPBP3):c.1005G>T (p.Met335Ile)	Inborn genetic diseases [RCV002539987]\|not provided [RCV000875411]	likely benign	19	17341074	17341074	Human	1	name
15113373	CV694355	single nucleotide variant	NM_032620.4(GTPBP3):c.1084C>T (p.Pro362Ser)	not provided [RCV000872726]	likely benign	19	17341153	17341153	Human		name
21068915	CV788923	single nucleotide variant	NM_032620.4(GTPBP3):c.1439T>A (p.Ile480Asn)	Combined oxidative phosphorylation defect type 23 [RCV000985106]	likely pathogenic\|uncertain significance	19	17341663	17341663	Human	1	name
8628234	CV83378	single nucleotide variant	NM_001195422.1(GTPBP3):c.495C>T (p.Phe165=)	Malignant melanoma [RCV000063458]	not provided	19	17338579	17338579	Human		name
26903717	CV858581	single nucleotide variant	NM_032620.4(GTPBP3):c.1252G>A (p.Val418Met)	Combined oxidative phosphorylation defect type 23 [RCV005429048]\|Inborn genetic diseases [RCV002557942]\|PIGG-related neurodevelopmental disorder [RCV001089946]\|not provided [RCV001568453]	uncertain significance\|not provided	19	17341321	17341321	Human	3	name
597863587	CV3814049	duplication	NM_032620.4(GTPBP3):c.102_106dup (p.Ile36fs)	not provided [RCV005147118]	pathogenic	19	17338055	17338056	Human		name
598212430	CV4009047	single nucleotide variant	NM_001195422.1(GTPBP3):c.104G>A (p.Trp35Ter)	Combined oxidative phosphorylation defect type 23 [RCV005400660]	likely pathogenic	19	17335107	17335107	Human	1	name
127268545	CV1064671	deletion	NM_032620.4(GTPBP3):c.521_527del (p.Arg174fs)	not provided [RCV001389269]	pathogenic	19	17338668	17338674	Human		name
329954578	CV1860007	microsatellite	NM_032620.4(GTPBP3):c.509_510del (p.Glu170fs)	See cases [RCV003232998]	likely pathogenic	19	17338657	17338658	Human		name
597907324	CV3773198	deletion	NM_032620.4(GTPBP3):c.930_931del (p.Val311fs)	not provided [RCV005113263]	pathogenic	19	17339554	17339555	Human		name
151718347	CV1419659	deletion	NM_032620.4(GTPBP3):c.1066_1070del (p.Ser356fs)	not provided [RCV001965575]	uncertain significance	19	17341135	17341139	Human		name
9831495	CV178785	indel	NM_032620.4(GTPBP3):c.32_33delinsGTG (p.Gln11fs)	Combined oxidative phosphorylation defect type 23 [RCV000157595]	pathogenic\|not provided	19	17337643	17337644	Human		name
151751301	CV1426722	duplication	NM_032620.4(GTPBP3):c.167_178dup (p.Pro56_Gly59dup)	not provided [RCV002006890]	uncertain significance	19	17338111	17338112	Human		name
151778183	CV1477004	deletion	NM_032620.4(GTPBP3):c.167_178del (p.Pro56_Gly59del)	not provided [RCV001896987]	uncertain significance	19	17338112	17338123	Human		name
151861124	CV1423205	deletion	NM_032620.4(GTPBP3):c.633_647del (p.Asp211_Glu215del)	not provided [RCV001997145]	uncertain significance	19	17338990	17339004	Human		name
151839282	CV1492881	deletion	NM_032620.4(GTPBP3):c.934_957del (p.Gly312_Val319del)	not provided [RCV001881148]	uncertain significance	19	17339549	17339572	Human		name
156234404	CV2153430	deletion	NM_032620.4(GTPBP3):c.826_834del (p.Ile276_Ser278del)	not provided [RCV003025768]	uncertain significance	19	17339445	17339453	Human		name
156259809	CV2216267	deletion	NM_032620.4(GTPBP3):c.938_961del (p.Pro313_Arg320del)	Inborn genetic diseases [RCV002702955]	uncertain significance	19	17339560	17339583	Human	1	name
152067459	CV1566863	indel	NM_032620.4(GTPBP3):c.114_115delinsCT (p.Ala38_Leu39=)	not provided [RCV002091121]	likely benign	19	17338068	17338069	Human		name
405273141	CV3190949	single nucleotide variant	NC_000019.10:g.17335001C>T	GTPBP3-related disorder [RCV003909506]	likely benign	19	17335001	17335001	Human		trait , alternate_id

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